Blue Book Report 2009.Pdf

Foreword

Ocular disorders, proven or presumed to be inherited in purebred dogs, have been a topic of intense dialogue by Diplomates of the American College of Veterinary Ophthalmologists (ACVO) for many years. Discussions commenced in the latter half of the 20th century during the early days of this College’s inception, have continued into the 21st century, and will no doubt continue for years to come. Our knowledge of the existence, nature, progression, and inheritance of ocular disorders continues to expand as this field of veterinary science evolves. The Genetics Committee of the ACVO was originally formed in response to requests by registries, breed groups and veterinarians, with the intent to provide a scientific advisory panel and guidelines regarding ocular disorders in purebred dogs. The Genetics Committee of today remains engaged in an ongoing effort to update information on ocular disorders for this purpose.

The most current edition of this document has been prepared in compact disc format. The content of this production has originated from several sources. The generation of statistical information is made possible by the efforts of dedicated breeders of purebred dogs who present their dogs to Diplomates of the American College of Veterinary Ophthalmologists for Canine Eye Registration Foundation (CERF) examinations. The research copies of the CERF forms are then conscientiously submitted to the registry by the examining Veterinary Ophthalmologists. CERF enters the data into the computer data bank and generates annual statistics. The statistics for each breed are then reviewed yearly by the Genetics Committee for the most recent year and from the previous 5 years. Recommendations regarding the ocular disorders listed for each breed and the breeding advice are compiled following guidelines detailed elsewhere in this publication. A comprehensive review of the scientific literature since the last publication in 1999 was undertaken by all committee members. The scientific articles and breed disorders from the statistical and literature review have been added to the information on each breed in the production of this CD/text. The collective educated clinical experience of the committee members is utilized, to reach a consensus of opinion in areas where there remains a paucity of hard scientific proof regarding certain identified breed problems.

The current Genetics Committee has instituted an annual scientific literature search, in addition to the previously established yearly statistical data review made possible by CERF. This information will be compiled and submitted in an effort to maintain a bank of current information for future editions and versions of this document. The content of all editions past, present and future will remain dynamic and ever changing as more precise technologies advance the study of the canine genome, as continued scientific research expands our knowledge, and as the data base grows.

This production builds on the basis provided by the diligent efforts of all previous Genetics Committees. Out of collegial respect and for an historical perspective I would like to acknowledge the previous Chairpersons of the ACVO Genetics Committee recognizing that with every chair, a multitude of dedicated committee members were responsible for the accomplishments and contributions of each committee. Dr. David Covitz 1986-1988, Dr. Randall Scagliotti 1988-1992, Dr. Cynthia Cook 1992-1995, Dr. Keith Collins 1995-1997, the late Dr. Cindy Wheeler 1997-1999, Dr. Nancy Bromberg 1999-2003 and the current chair Dr. Andras Komaromy 2006-2008.

It has been an honour and a privilege to serve the ACVO, my fellow Diplomates, reputable dog breeders, and our most trusted canine companions in this endeavour.

Melanie Morgan Williams DVM, Diplomate ACVO, Chair, ACVO Genetics Committee 2003-2006

Fifth Edition 2006, 2007, and 2009 Versions Acknowledgements:

The following groups and individuals deserve credit for the production of this edition of Ocular Disorders Presumed to be Inherited in Purebred Dogs.

The ACVO Board of Regents

Art Siegel, DVM, PhD, University of Illinois and President, Veterinary Medical DataBases

Debbie Folks-Huber, B.S, University of Illinois and The Veterinary Medical DataBases who has donated countless hours of her personal time to the preparation of this text.

CD Artwork, Erik Devantier, Ardilaun Design Studio, Stouffville, Ontario, Canada

Artwork of Canine Globe from previous editions, artist unknown

Genetics Committee members Dr. Joshua Bartoe, Dr. Michel Carrier, Dr. Katie Diehl (committee chair: 2009-2010), Dr. Dave Harling, Dr. Andras Komaromy (committee chair: 2007-2008), Dr. Denise Lindley, Dr. Nicole MacLaren, Dr. Charlie Martin, Dr. Lisa Meek, Dr. Susan Nelms, Dr. Sylvia Neumann, Dr. Phil Pickett, Dr. Bernhard Spiess, Dr. Melanie Williams, and CERF liaison Dr. Carrie Breaux.

Fifth Edition 2009 Version Content:

Scientific literature and statistics to December 31st, 2007. Acceptance of literature and statistics @ Genetics Committee meeting October 2008. Compilation and proofing of content of 2009 Version, November 2008 – April 2009. Publication, June 2009.

What is the purpose of this book?

The Canine Eye Registration Foundation (CERF), other breed registry groups, breed clubs, and practicing veterinarians have requested that the American College of Veterinary Ophthalmologists (ACVO) provide a scientific advisory panel to furnish guidelines regarding ocular disorders of major concern to purebred dogs. The Genetics Committee of the ACVO was formed in response to these requests and is engaged in an ongoing effort to update information on ocular disorders proven or suspected to be hereditary in purebred dogs. The compendium of ocular disorders and breeding recommendations which follow are interim guidelines. They are reviewed annually and revised whenever additional information becomes available.

How can this information be used?

National and international breed clubs are encouraged to submit their input regarding breeding decisions for ocular disorders found in their breeds. Local breed clubs can participate by encouraging and organizing ocular examination clinics and forwarding their requests and concerns to their national organization. Practicing veterinarians are encouraged to contribute by informing all owners of potential breeding animals of the value and availability of ocular examinations, prior to breeding. Information regarding ocular disorders found in litters or individuals can be forwarded to the Genetics Committee via any ACVO diplomate. Individual breeders wishing to uphold high ethical standards for the improvement of their breed are urged to contribute by annual examination of their breeding animals and by encouraging the same from other breeders. Further information can be obtained from the Canine Eye Registration Foundation: VMDB/CERF, 1717 Philo Rd., PO BOX 3007, Urbana, IL, 61803-3007, 217-693-4800. Only through increased awareness of the problems and a sustained cooperative effort to disseminate accurate information, will we be able to control and/or eliminate hereditary eye diseases in purebred dogs.

How do we identify an inherited eye disease?

Although there are noteworthy exceptions, most of the ocular diseases of dogs which are presumed to be hereditary have not been adequately documented. Genetic studies require examination of large numbers of related animals in order to characterize the disorder (age of onset, characteristic appearance, rate of progression) and to define the mode of inheritance (recessive, dominant). In a clinical situation, related animals are frequently not available for examination once a disorder suspected to be inherited is identified in an individual dog. Maintaining a number of dogs for controlled breeding trials through several generations is a long and costly process. Both of these obstacles are compounded by the fact that many ocular conditions do not develop until later in life.

Until the genetic basis of an ocular disorder is defined in a published report, we rely on what statistical information is available from registry organizations, informed opinions and consensus from ACVO diplomates, and must satisfy ourselves with terms like "presumed inherited" and "suspected to be inherited". Several companies provide information on genetic testing greatly assist in providing more information and data to aid in defining the canine genetics of ocular diseases.

· when the frequency is greater than in other breeds · when the frequency increases in a given breed as a whole · when the frequency is greater in related dogs within a breed · when it has a characteristic appearance and location · when it has a characteristic age of onset and course of progression (predictable stages of development and time for each stage to develop) · when it looks identical to an entity which has been proven to be inherited in another breed

In this book, we chose the term "BREEDING ADVICE" and intentionally avoided the words "certifiable" and "registerable". The ACVO does not serve as a registry organization. Registry organizations operate independently of the ACVO and set their own standards for registration. Any registry organization may use the information in this compendium and results of examinations performed by ACVO Diplomates in the registering of animals with regard to breeding suitability as they see fit.

It is important to recognize that the sensitivity of genetic disorder detection is greater when large numbers of dogs are examined. The extensive number of disorders listed in this book for some breeds may reflect the popularity of the breed and the numbers of animals evaluated. Conversely, the lack of disorders listed for other breeds often reflects only the paucity of examinations reported for each breed. For these reasons, the ACVO Genetics Committee strongly recommends annual evaluations of dogs of all breeds as the imperative first step in the control of hereditary ocular disorders. We would like to acknowledge the contribution of the Canine Eye Registration Foundation (CERF) in providing statistical summaries of ophthalmic examinations from their files.

For each breed, specific ocular disorders have been listed which are known or suspected to be inherited based on one or more of the following criteria:

1) There are published reports in the scientific literature regarding a condition in a particular breed with evidence of inheritance.

2) The incidence of affected animals (from CERF reports) is greater than or equal to 1% of the examined population with a minimum of five affected animals per five year period. Regardless of the population of dogs examined, if 50 or more affected individuals are identified in a five year period, the entity will be listed for that breed.

3) A specific request from a breed club that a condition be included for their breed may be considered at the ACVO annual meeting of the Genetics Committee if information is received by August 1. Such requests are reviewed critically and must include specific documentation as to the disorder in question and the numbers seen. Further information from the breed club may be requested. The request must receive agreement by a majority of the committee.

4) There is overwhelming opinion by a majority of the Genetics Committee members that clinical experience by ACVO Diplomates would indicate a particular condition should be listed for a breed, in spite of the absence of direct evidence of affected animals on CERF reports.

5) Results of genetic laboratory research and genetic testing.

Two categories of advice regarding breeding have been established:

· NO: Substantial evidence exists to support the heritability of this entity AND/OR the entity represents a potential compromise of vision or other ocular function.

· BREEDER OPTION: Entity is suspected to be inherited but does not represent potential compromise of vision or other ocular function. Please note, although the dog will ‘pass’ it will have additional documentation on its CERF number with a category listing the problem (see http://www.vmdb.org/categories.html for current categories).

When the breeding advice is "NO", even a minor clinical form of the entity would make this animal unsuitable for breeding. When the advice is "BREEDER OPTION", caution is advised. In time, it may be appropriate to modify this stand to "NO" based on accumulated evidence. If, in time, it becomes apparent that there is insufficient evidence that an entity is inherited, it may be deleted from the list.

There are currently ten disorders for which there is an unequivocal recommendation against breeding in all breeds:

These are conditions which frequently result in blindness and for which there is definite evidence of heritability in one or more breeds. However, these disorders will not be listed on the individual breed page for a given breed, unless they also meet the criteria described above. *Note: The prudent approach of these disorders is to assume they are hereditary except in cases specifically known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases or nutritional deficiencies.

1. Keratoconjunctivitis sicca (KCS) Breeding is not recommended for any animal demonstrating keratitis consistent with KCS. The prudent approach is to assume KCS to be hereditary except in cases suspected to be non-genetic in origin. See above *note.

2. Cataract Breeding is not recommended for any animal demonstrating partial or complete opacity of the lens or its capsule unless the examiner has also checked the space for "significance of above cataract unknown" or unless specified otherwise for the particular breed. See above *note. 3. Lens luxation or subluxation see above *note. 4. Glaucoma see above *note. 5. Persistent hyperplastic primary vitreous 6. Retinal detachment see above *note. 7. Retinal dysplasia - geographic or detached forms see above *note. 8. Optic nerve coloboma 9. Optic nerve hypoplasia

©2009, American College of Veterinary Ophthalmologists 10. Progressive Retinal Atrophy (PRA) Breeding is not advised for any animal demonstrating bilaterally symmetric retinal degeneration (considered to be PRA unless proven otherwise).

In breeds recognized with Persistent Pupillary Membrane (PPM) as an inherited problem there is an unequivocal recommendation against breeding when there is PPM iris to lens, or PPM iris to cornea, or iris sheets. Breeding advice is ‘NO’.

The following breeds are recommended to have a preliminary examination prior to initial pharmacological dilation to best facilitate identification of these disorders :

Dalmatian – iris hypoplasia/sphincter dysplasia Australian Shepherd – iris coloboma Mastiff – persistent pupillary membrane Basenji – persistent pupillary membrane Pembroke Welsh Corgi – persistent pupillary membrane

What can be detected during a CERF examination?

A routine CERF screening examination includes indirect ophthalmoscopy and slit lamp biomicroscopy following pharmacological dilation of the pupils. Gonioscopy, tonometry, Schirmer tear test, electroretinography, and ultrasonography are not routinely performed; thus, dogs with goniodysgenesis, glaucoma, keratoconjunctivitis sicca, early lens luxation/subluxation or some early cases of progressive retinal atrophy might not be detected without further testing.

The diagnoses obtained during an ophthalmic CERF examination refer only to the phenotype (clinical appearance) of an animal. Thus it is possible for a clinically normal animal to be a carrier (abnormal genotype) of genetic abnormalities.

An individual ACVO Diplomate may disagree with the breeding advice contained in this compendium. It is appropriate for this examiner to contact the ACVO Genetics Committee to voice disagreement, initiate change or suggest additions. The members of the Genetics Committee represent the ACVO but acknowledge that the information generated for a breed may not agree with the knowledge and clinical experience of every individual ACVO Diplomate.

What is the role of the responsible dog breeder?

The final beneficiary of the information in this book is the dog breeder. It is up to the conscientious breeder to use this information along with other criteria in selecting which animals to breed. To assist this determination, current certification with CERF is recommended. Animals currently free of heritable eye disease will be issued a CERF certificate on receipt of the examination/application by CERF. To avoid confusion between a normal animal (no evidence of heritable eye disorders) and one that may have a minor fault coming under the advice of Breeder Option, the Breeder Option category will be printed on the certificate. This is intended to

©2009, American College of Veterinary Ophthalmologists stimulate conversation as to the specific nature of the Breeder Option condition found in that particular animal, allowing breeders using a dog in a breeding program to make an informed decision.

There are many ocular conditions which are a direct result of selection for a facial conformation considered desirable by breeders.

These include 1). Entropion 2). Ectropion 3). Macroblepharon 4). Exposure keratopathy syndrome

Facial conformation with excessively prominent eyes, heavy facial folds, or eyelids which are either inverted or everted predispose animals to corneal irritation, discomfort and if untreated, ultimate loss of vision. A responsible breeding program should recognize and select away from these exaggerated facial features.

The information contained in this book is protected by copyright. Duplication of any part is not allowed without express written permission from the American College of Veterinary Ophthalmologists.

Agenesis - congenital failure of development (aplasia)

Albinism (partial) - localized absence of pigmentation, particularly in the iris and choroid. This may be accompanied by microphthalmia and ocular defects (coloboma).

Allele - one of two or more alternative forms of a gene occupying corresponding sites (loci) on a pair of homologous chromosomes.

Amblyopia - reduced vision in an eye that appears normal at the time of routine ophthalmic examination.

Anterior - denotes the front portion; e.g. the cornea is anterior to the lens.

Anterior chamber - space between the cornea and iris, filled with aqueous humor.

Aplasia - see agenesis

Axis - along an imaginary line connecting the center of the cornea and the retina, axial (adj.).

Bilateral - both eyes (see OU).

Blepharospasm - squinting; spastic closure of the lids, usually due to pain.

Canthus - junction of the upper and lower lid; one each nasal and temporal.

Caruncle - fleshy conjunctival tissue at the nasal canthus; may contain hair (ciliated caruncle) which, if contacting the cornea, causes irritation and/or tearing.

Cataract - partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region.

Ceroid lipofuscinosis - An inherited disease of man and animals characterized by the accumulation of lipopigment in various tissues of the body including the eye. It results in progressive neurologic disease including blindness. (Also called Batten’s disease)

Cherry Eye - see prolapsed gland of the third eyelid.

Choroid - thin vascular layer that lies between the sclera and retina in the posterior part of the eye.

Choroidal hypoplasia - inadequate development of the choroid present at birth and non- progressive. This condition is most commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly".

©2009, American College of Veterinary Ophthalmologists Chronic superficial keratitis (CSK)- bilateral inflammatory disease of the cornea which usually starts as a grayish haze to the inferior or inferiotemporal cornea, followed by the formation of a vascularized subepithelial opacity that begins to spread toward the central cornea; pigmentation may follow the vascularization. If severe, vision impairment occurs. Plasma cell infiltration of the nictitans may occur in conjunction with CSK, or on its own. (Also called “pannus”)

Ciliated caruncle - see caruncle.

Ciliary body cysts – pigmented cysts arising from pigmented epithelial cells of the ciliary body. These may float into the anterior chamber. They may be associated with an inherited inflammation of the uvea in Golden Retrievers.

Co-dominance - Refers to a set of three phenotypes controlled by a pair of alleles. The heterozygote displays a phenotype either intermediate between, or distinctly different from, the two homozygous phenotypes.

Collie eye anomaly - a congenital syndrome of ocular anomalies characterized by bilateral and often symmetrical defects including choroidal hypoplasia with or without, coloboma and retinal detachment. Vision impairment varies with the degree to which and individual is affected and may be complete.

Coloboma - a congenital cleft or defect of a portion of the eye; most frequently affecting the iris or optic nerve.

Congenital - a condition that is present at birth. A congenital lesion may or may not be inherited. For example a non-inherited congenital anomaly may occur as a result of arrested development following exposure to a viral infection while in the uterus.

Conjunctiva - thin vascular membrane which covers the sclera, the third eyelid and the inner surfaces of the upper and lower eyelids.

Cornea - Transparent structure forming the front of the eye; continuous with the sclera at the limbus.

Corneal degeneration - Degeneration or cell death in one or more of the layers of the cornea which may be spontaneous or secondary to other ocular conditions.

Corneal dystrophy - non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers (epithelium, stroma, endothelium). The term dystrophy implies an inherited condition. It is usually bilateral although not necessarily symmetrical and the onset in one eye may precede the other.

Corneal dystrophy, endothelial - Corneal endothelial dystrophy is an abnormal loss (degeneration) of the inner lining (endothelium) of the cornea that causes progressive fluid retention (edema). The edema results in keratitis, corneal clouding, and decreased vision.

Corneal dystrophy, epithelial stromal - A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy is often associated

Corneal edema - fluid accumulation within the cornea resulting in cloudiness.

Corneal erosion - defect of the corneal epithelium that is a type of superficial corneal ulcer.

Day blindness - the loss of photopic (daylight) vision caused by selective degeneration of the cone photoreceptors. (Also called hemeralopia)

Dermoid - a congenital patch of skin in an abnormal location. Most ocular dermoids affect the cornea or adjacent conjunctiva, and their presence may cause ocular irritation.

Descemet's membrane - the basement membrane of the corneal endothelium.

Distichiasis - eyelashes abnormally located in the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog but it usually occurs at an early age (e.g. <1-2 years). It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

Dominant - describes the mode of hereditary transmission such that only one of the two genes of a pair must be affected in order for the individual to demonstrate the characteristic controlled by that gene. A completely dominant phenotype is identical in individuals either heterozygous or homozygous for the responsible allele. Incomplete dominance is used variably to refer to incomplete penetrance, incomplete expressivity, or codominance.

Dry eye - see keratoconjunctivitis sicca

Dysplasia - abnormal development or growth.

Dystrophy - noninflammatory, developmental, nutritional or metabolic abnormality; dystrophy implies a possible hereditary basis and is usually bilateral.

Ectasia - expansion or distention, usually due to thinning, particularly the sclera.

Ectopic cilia - aberrant hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs. They may cause discomfort and corneal disease.

Ectropion - a conformational defect resulting in eversion (rolling-out) of the eyelids, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

Ectropion with macroblepharon - ectropion associated with an excessively large eyelid opening and laxity of the canthus structures. Central lower lid ectropion is often associated with entropion of the adjacent area of lid such as Diamond Eye. This may cause severe ocular irritation.

Electroretinogram (ERG) - a test of retinal function; a graphic record of the electrical response that follows stimulation of the retina by light. Note that the ERG test is not part of a routine eye screening examination.

Endothelium (of the cornea) - the innermost layer of the cornea.

Entropion - a conformational defect resulting in "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

Epiphora - spillover of tears onto the face; may be caused either by increased tear production (as a result of inflammation) or reduced tear drainage through the nasolacrimal duct.

Epithelium (of the cornea) - the outermost layer of the cornea.

Everted cartilage of the third eyelid - scroll-like curling of the cartilage of the third eyelid, usually everting the margin. The condition may occur in one or both eyes and may cause mild ocular irritation.

Exophthalmos - protrusion of the eyeball beyond the boney orbit; it may result in inadequate (or incomplete) closure of the eyelids with subsequent exposure and drying of the cornea (exposure keratopathy syndrome). This condition is common in brachycephalic and toy breeds with shallow orbits.

Exposure keratopathy syndrome - a corneal disease involving all or part of the cornea, resulting from inadequate blinking. This results from a combination of anatomic features including shallow orbits, exophthalmos, macroblepharon, and lagophthalmos.

Expressivity - refers to the phenotypic expression, or clinical appearance, of a given genotype. Variable expressivity refers to a range of different phenotypes, all representing the same genotype at a given locus.

Eyelids - The moveable folds of skin and muscle over the superior and inferior portions of the eye. The eyelids serve to protect the eye from external objects, are a source for a portion of the tear film, distribute the tear film over the cornea, assist in removal of the tear film from the eye and in the exclusion of light.

Fundus - the posterior portion of the interior of the eye as viewed with an ophthalmoscope; fundic, adj.

Genotype - refers to the allele(s) present at one or more genetic loci. Most commonly refers to the pair of alleles (either identical or different) present at a single chromosome locus; distinct from phenotype.

©2009, American College of Veterinary Ophthalmologists Glaucoma - Glaucoma is characterized by an elevation of intraocular pressure (IOP) which causes intraocular damage resulting in blindness. The elevated intraocular pressure occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of the IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine screening exam for certification.

Glaucoma, pigmentary - see ocular melanosis

Goniodysgenesis - congenital anomaly characterized by the persistence of a sheet of tissue between the base of the iris and the inner corneoscleral junction in the area where drainage normally occurs. Diagnosis is by gonioscopy (see below).

Gonioscopy - a specialized procedure which uses a contact lens to examine the drainage angle. Note that this test is not part of a routine eye screening examination.

Hemeralopia - see day blindness - The term has become controversial due to differing definitions in other languages.

Hereditary - genetically transmitted or transmissible as a physical characteristic from parent to offspring.

Heterozygote - an individual in which the members (or alleles) of a given pair of genes are dissimilar; heterozygous, adj.

Homozygote - an individual in which the members (or alleles) of a given pair of genes are alike; homozygous, adj.

Hypoplasia - defective development of an organ or part resulting in a smaller than normal size or an immature state.

Immune-mediated disease - a state in which the immune responses, which are essential to the protection of the body, act in an enhanced and unregulated fashion resulting in damage or destruction of autogenous (self) bodily tissues.

Imperforate lacrimal punctum - developmental anomaly resulting in failure of opening of the lacrimal duct located at the medial lid margins. The lower punctum is more frequently affected. This defect usually results in epiphora, an overflow of tears onto the face.

Incidence - rate or frequency of occurrence of a disease condition; the amount or extent of occurrence.

Incidental - a chance occurrence; minor; of secondary importance.

Inferior – (also referred to as ventral) lower region; e.g. the lower eyelid is inferior to (below) the upper eyelid.

Inflammation - redness, swelling, and pain that may or may not be associated with infection.

Iridocorneal angle - the junction between the iris and the cornea; the drainage angle. Aqueous humor leaves the anterior chamber via the trabecular meshwork within the iridocorneal angle into the venous circulation.

Iris - the visible, colored portion of the vascular tunic of the eye, situated in front of the lens, with a central opening, the pupil.

Iris coloboma - A developmental anomaly in which a portion of the iris is absent. It may be a separate disorder or associated with other ocular malformations.

Iris cyst - pigmented cysts arise from posterior pigmented epithelial cells of the iris and remain attached or break free, floating as pigmented spheres of various sizes in the anterior chamber. Some cysts tend to adhere to the endothelial surface of the cornea. Rarely, cysts may be numerous enough to impair vision. They may be associated with an inherited inflammation of the uvea in Golden Retrievers.

Iris melanoma - locally invasive cancer of melanocyte (pigment) cell origin within the iris. Occurs with a higher than normal incidence in the Labrador retriever.

Iris sheets - continuous layer of uveal tissue bridging the pupil; this is the most severe manifestation of persistent pupillary membranes (PPM).

Keratitis - inflammation of the cornea; may or may not be associated with infection.

Keratitis, punctate - inflammation of the cornea accompanied by multiple small areas of corneal ulceration.

Keratoconjunctivitis sicca (KCS) -an abnormality of the tear film with a deficiency of the aqueous portion of the tears. Progressive KCS may result in ocular irritation and/or vision impairment. Also called dry eye. The test for this condition is the Schirmer Tear Test, which is not part of a routine eye screening examination.

Keratoconus - thinning and cone-shaped protrusion of the cornea.

Lagophthalmos - failure to close the eyelids completely; results in exposure of the cornea and conjunctiva.

Lens - biconvex refractive structure within the eye suspended between the iris and the retina that focuses sharp images on the retina for acute vision. The outermost membrane surrounding the lens is referred to as the capsule. The center of the lens is the nucleus. The remainder of the lens is the cortex.

Lens luxation - partial (subluxation) or complete displacement of the lens from the normal anatomic site behind the pupil. Lens luxation may result in blinding retinal detachment and/or elevated intraocular pressure (glaucoma) causing vision impairment, pain, and blindness.

Limbus – the normal junction between the cornea and the sclera.

Low amplitude ERG - form of retinal degeneration characterized by reduced amplitude of the electroretinogram preceding clinical signs of vision impairment. Note that the ERG test is not part of a routine eye screening examination.

Macroblepharon - an exceptionally large palpebral fissure. Macroblepharon in conjunction with laxity of the lateral canthal structures may lead to lower lid ectropion and upper lid entropion. Either of these conditions may lead to conditions associated with corneal exposure or irritation.

Meibomian glands - Secretory glands located in the eyelid margin which produce the oily portion of the tear film. Abnormal differentiation of these glands results in formation of aberrant hair follicle- distichia.

Merle - refers to an incompletely dominant phenotype present in several breeds. Heterozygous individuals (M/m) have a coat color phenotype characterized by dilute patches (i.e. blue, gray, cream or white) that vary irregularly in size, extent, and intensity of color. Deafness and ocular defects are sometimes seen in heterozygous individuals. Homozygosity (M/M) is sublethal. Homozygous individuals surviving to birth exhibit marked hypopigmentation, ocular defects that may include microphthalmia, blindness and colobomas, and deafness.

Micropapilla - small optic disc which is not associated with vision impairment. May be unable to differentiate from optic nerve hypoplasia on a routine, dilated, screening eye examination.

Microphakia - developmental anomaly present at birth in which there is an abnormally small lens.

Microphthalmia (microphthalmos) - developmental anomaly in which the eyeball is abnormally small. This is often associated with other ocular malformations, including defects of the cornea, anterior chamber, lens and/or retina.

Nasal - the region of the eye located toward the nose (medial).

Nictitating membrane - see third eyelid.

Night blindness - Loss of scotoptic (night) vision caused by degeneration of the rods; see nyctalopia

Non-tapetal fundus (non-tapetum) - In animals with a tapetum, this term refers to that area of the fundus which completely surrounds the paracentral tapetal region.

Nyctalopia - commonly used to refer to night-blindness, or loss of scotopic vision. Caused by selective degeneration of the rod photoreceptors. The term has become controversial due to differing definitions in other languages. See night blindness.

©2009, American College of Veterinary Ophthalmologists Ocular melanosis – abnormal proliferation of melanocytes within the uveal tract. Obstruction of the aqueous outflow pathways occurs resulting in glaucoma. This condition has been identified most commonly in the Cairn terrier.

O.D. - oculus dexter; the right eye.

Optic disc (optic disk; optic papilla) - that part of the optic nerve which is visible, by ophthalmoscopic examination, in the fundus.

Optic nerve (disc) coloboma - congenital cavity in the optic disc which, if large, may cause blindness or vision impairment.

Optic nerve hypoplasia - congenital failure of development of the optic nerve which causes blindness and abnormal pupil response in the affected eye. May be unable to differentiate from micropapilla on a routine (dilated) screening ophthalmoscopic exam.

O.S. - oculus sinister; the left eye.

O.U. - oculus uterque; both eyes.

Palpebral - associated with the eyelids.

Pannus - see Chronic superficial keratitis

Paracentral - situated adjacent to the center.

Paraxial - situated adjacent to the visual axis.

Penetrance - refers to the proportion of heterozygous individuals expressing the (relatively dominant) phenotype characteristic of the homozygotes. Incomplete penetrance means that less than 100% of the heterozygous individuals express the (relatively) dominant phenotype.

Persistent hyaloid artery (PHA) - congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant).

Persistent hyperplastic primary vitreous (PHPV) - congenital defect resulting from abnormalities in the regression of the hyaloid artery (the primary vitreous) and the interaction of this blood vessel with the posterior lens capsule/cortex during embryogenesis. This condition is often associated with persistent hyperplastic tunica vasculosa lentis (PHTVL) which results from failure of regression of the embryologic vascular network which surrounds the developing lens.

Persistent pupillary membranes (PPM) - persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally during the first three months of life. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest potential threat to vision.

Phenotype - physical appearance. Distinct from genotype.

Pigmentary glaucoma - see ocular melanosis

Pigmentary uveitis - see uveitis, pigmentary

Pole - either extreme of the axis; usually applied to the anterior or posterior axial surfaces of the lens; polar, adj.

PRCD - progressive rod-cone degeneration, see retinal atrophy, generalized

Prevalence - percent of a population affected with a disorder at any given time.

Prolapsed gland of the third eyelid - protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated and cause tear film anomalies. Commonly referred to as "cherry eye".

Progressive Retinal Atrophy (PRA) - see retinal atrophy, generalized

Proliferative keratoconjunctivitis - Nodular fleshy proliferation occurring most commonly at the temporal limbus. The lesion contains white blood cells (lymphocytes and plasma cells) indicating immune stimulation. This condition is most commonly seen in the Collie.

Punctum - one of the two small openings at the nasal eyelid margin which drain the tears away from the eye and into the nasolacrimal drainage system. Abnormalities in the puncta may result in epiphora, or overflow of tears.

Pupillary membrane - sheet of tissue covering the pupil which is formed during gestation and regresses prior to the eyelids opening. Failure of complete regression results in persistent pupillary membranes (PPM).

Recessive - mode of inheritance in which both genes must be alike in order for the characteristic to be expressed in an individual. For a recessively inherited condition, both genes must be abnormal for the disease to be present.

Retinal atrophy, generalized - A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality is also known as progressive retinal atrophy or PRA, and may be detected by electroretinogram (not part of a routine eye screening examination) before there are detectable funduscopic changes seen by ophthalmoscopy. There are multiple genetic types of PRA including the rod cone dysplasias described elsewhere. Tests are available to identify the genetic mutation in some breeds.

Retinal degeneration - see retinal atrophy-generalized

Retinal detachment - separation of the sensory retina from the underlying tissue. It results in blindness when complete.

Retinal dysplasia - Abnormal development of the retina present at birth; typically non- progressive and generally recognized to have three forms: folds, geographic, and detached.

Retinal dysplasia - folds - seen ophthalmoscopically as linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. In some puppies this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in some breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

Retinal dysplasia - geographic - Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and areas of retinal disorganization. This form may be associated with vision impairment.

Retinal dysplasia - detached - severe retinal disorganization associated with separation (detachment) of the retina. The geographic and detached forms of retinal dysplasia are associated with partial or complete vision impairment or blindness. Retinal dysplasia is known to be inherited in many breeds. The genetic relationship between the three forms of the disease is not known for all breeds.

Retinopathy - any non-inflammatory condition of the retina. These conditions can usually be detected by ophthalmoscopic examination, but an electroretinogram (ERG) may be required in some instances.

Rod-cone dysplasia - an inherited retinal disease characterized by abortive or abnormal development of rods and cones. Affected animals become blind early in life, usually within the first 6 months.

rod-cone dysplasia, type 1 (rcd1) - A form of PRA identified in Irish setters. Clinical night blindness is observed as early as 6 weeks of age progressing to total blindness by one year. It may be diagnosed as early as 24 days with an ERG. Histologically the disease can be detected by 6 weeks. The disorder is caused by a mutation present in exon 21/codon 807 of the cGMP PDE Beta gene. A mutation-based gene test is now available that will unequivocally identify genetically normal, affected and carrier dogs. The test is accurate only for this mutation and is of no value in identifying other forms of PRA.

Rod-cone dysplasia, type 2 (rcd2) - A form of PRA identified in Collies. Inherited autosomal recessive trait characterized by abortive or abnormal development of rods and cones. The disease can be detected histologically by 6 weeks. Clinical night blindness is observed as early as 6 weeks with total blindness by 1 year of age. It may be diagnosed as early as 24 days with an ERG. Histologically the disease can be detected by 6 weeks. This form of retinal dysplasia is clinically similar to, but genetically distinct from that seen in the Irish setter.

Rod-cone dysplasia, type 3 (rcd3) - A form of PRA identified in the Cardigan Welsh Corgi as an autosomal recessive trait caused by a one-base-pair deletion in the gene

©2009, American College of Veterinary Ophthalmologists encoding the alpha subunit of cyclic GMP phosphodiesterase. PRA begins early in life with clinical signs of night blindness and lack rod ERG responses seen at 6-8 weeks of age. Dogs are completely blind by 2-3 years of age when ophthalmoscopic signs are first visible.

Rod dysplasia - Abnormal development of the visual cells resulting in vision impairment in dim light by 6 months and total blindness at 3-5 years.

Schirmer tear test - a test to measure tear production; this test is not part of the routine screening examination.

Sclera - white, opaque outer most layer of the eyeball.

Scleral ectasia - congenital or acquired thinning of the sclera, see staphyloma.

Sclero-uveitis - an inflammatory disease of the sclera and uvea; the condition may be serious enough to cause blindness.

Semi-dominance - used variably to refer to either co-dominance, incomplete penetrance, or variable expressivity.

Staphyloma - an area of corneal or scleral thinning lined by uveal tissue.

Stroma (corneal) - layer of the cornea located between the epithelium and Descemet's membrane; comprises 90% of the corneal thickness.

Subcapsular (lens) - directly under the lens capsule.

Subepithelial (corneal) - directly under the epithelial layer.

Superior – (also referred to as Dorsal) upper region; e.g. the upper eyelid is superior to (above) the lower eyelid.

Synechia - Acquired attachment between the iris and cornea (anterior, peripheral) and/or lens (posterior). Distinct from congenital persistent pupillary membranes.

Tapetal degeneration - spontaneous degeneration of the tapetum, may be localized or diffuse. It is believed not to affect vision and does not result in functional or structural damage to the retina.

Tapetum - reflective layer in the superior half of the choroid responsible for the shining of an animal's eyes in the dark; this layer may be normally absent in some animals. Its function is to enhance light stimulation of the retina, thereby improving an animal’s ability to see in dim light conditions.

Temporal - region of the eye located toward the ear (lateral).

©2009, American College of Veterinary Ophthalmologists Third eyelid - a triangular-shaped structure that consists of a T-shaped cartilage (to provide form and support) and a tear gland (to produce tears) that is covered on each side by conjunctiva. It is situated in the nasal canthus. It serves a protective function for the eye and occasionally protrudes across the eye. Also called the nictitating membrane, nictitans, membrana nictitans, and haw.

Tonometry - measurement of the intraocular pressure. Note that this is not part of a routine eye screening examination.

Tunica vasculosa lentis - embryonic vascular network which surrounds the lens; the anterior part is the pupillary membrane (see persistent pupillary membranes (PPM)). During development, this is continuous posteriorly with the hyaloid vasculature (see persistent hyperplastic primary vitreous (PHPV)). This structure normally fully regresses prior to birth.

Uveal tract (uvea) - pigmented, vascular and muscular layer of the eye comprising the iris, ciliary body, and choroid.

Uveitis - inflammation of the uveal tract (iris, ciliary body, choroid). May be caused by infectious agents or may be immune-mediated. There are syndromes of immune-mediated uveitis associated with facial skin depigmentation. With any form of uveitis, adhesions may develop between the iris and lens (posterior synechia) and the peripheral iris and cornea (peripheral anterior synechia). Other complications include secondary cataract and glaucoma.

Uveitis, pigmentary - a form of intraocular inflammation recognized in the Golden Retriever, may or may not be associated with other ocular or systemic disorders.

Uveodermatologic syndrome - an immune-mediated syndrome of severe uveitis combined with dermal depigmentation (vitiligo) and hair depigmentation (poliosis). Secondary glaucoma and/or retinal detachment are frequent complications of this disease. Seen most commonly in the Akita, Samoyed, Siberian Husky breeds. A similar syndrome is seen in people and is called Vogt-Koyanagi-Harada syndrome (VKH).

Vesicular - composed of small blisters or bullae.

Vitreous - a transparent gel-like fluid located between the lens and the retina.

Vitreous degeneration - liquefaction of the vitreous gel which may predispose to retinal detachment.

Vitreous prolapse - displacement of the vitreous anterior to the lens.

Vogt-Koyanagi-Harada (VKH) syndrome - see uveodermatologic syndrome.

Y sutures (lens sutures) - Y-shaped junction of the lens fibers at the poles. The anterior lens suture is an upright Y; the posterior lens suture is inverted.

Zonules - supporting fibers which attach the equator of the lens to the ciliary body.

Attempts have been made to confirm information on the following list of breeds/rare breeds. This list is not an endorsement of the breed status and may change from time to time as additional information is available.

To date there are no published reports of inherited ocular conditions in these breeds and/or the numbers of individuals for which examinations are recorded are too low to identify the presence of significant ocular disorders. Examinations are encouraged to accumulate information and reduce the likelihood of undetected conditions becoming problematic.

Alaskan noble companion dog Kyi leo American bulldog Large Munsterlander American foxhound Manchester terrier (standard) American hairless terrier Manchester terrier (toy) Anatolian shepherd dog Mudi Azawakh Otterhound Beauceron Perro de Presa Canario Bluetick coonhound Peruvian inca orchid Braque du Bourbonnais Pudelpointer Canadian Eskimo dog Pumi Cane corso Redbone Coonhound Chinese foo dog Scottish deerhound Drever Shiloh Shepherd Deutscher wachtelhund Silken windhound English foxhound Skye terrier Fila Brasileiro Small Munsterlander French spaniel Tahltan bear dog German longhaired pointer Telomian Grand basset griffon vendeen Tatra mountain shepherd Huntaway Tibetan KyiApso Kai ken Tibetan Mastiff Kooikerhondje Toy Fox Terrier Kromfohrlander Xoloitzcuintl (Mexican hairless dog)

A. Contact Information For Researchers and Testing Laboratories (as of May 30, 2008)

Dr. Gregory M. Acland Professor of Medical Genetics James A. Baker Institute for Animal Health Cornell University Hungerford Hill Rd, Ithaca, NY 14853-6401 Phone: 607-256-5684 Fax: 607-256-5608 Adjunct Professor of Ophthalmology Director, Retinal Disease Studies Facility University of Pennsylvania/NBC 382 West Street Road, Kennett Square, PA 19348 Phone: 610-444-1361 Fax: 610-925-8112 Email: [email protected]

Dr. Gustavo Aguirre Professor of Medical Genetics and Ophthalmology School of Veterinary Medicine University of Pennsylvania 3800 Spruce Street Philadelphia, PA 19151

Dr. Simon Petersen-Jones Associate Professor, Comparative Ophthalmology, Department of Small Animal Clinical Sciences, Michigan State University D-208 Veterinary Medical Center East Lansing. MI 48824-1314 Office Phone: 517-353-3278 Lab 1 Phone: 517-432-0144 Lab 2 Phone: 517-432-0010 Fax: 517-355-5164 Email: [email protected]

©2009, American College of Veterinary Ophthalmologists OptiGen, LLC Cornell Business & Technology Park 767 Warren Road, Suite 300 Ithaca, NY 14850 Tel: 607-257-0301 Fax: 607-257-0353 E-mail: [email protected] website: www.optigen.com

Animal Health Trust www.aht.org.uk

University of Missouri-Columbia College of Veterinary Medicine www.caninegeneticdiseases.net

The following genetic tests for inherited ocular disorders are for informational purposes only. This is not a complete list and these tests are not part of the CERF examination and are not endorsed by the ACVO. Other laboratories, not listed, are encouraged to contact the ACVO.

Gene Disease Breed Name Reference

Canine Multifocal Retinopathy – CMR1 Bull Mastiff VMD2 Guziewicz KE, Zangerl B, Lindauer SJ, Mullins English Mastiff RF, Sandmeyer LS, Grahn BH, Stone EM, Acland Dogue de Bordeaux GM, Aguirre GD. Bestrophin Gene Mutations Great Pyrenees Cause Canine Multifocal Retinopathy: A Novel Canine Multifocal Animal Model for Best Disease. IOVS 2007 Retinopathy – May;48(5):1959-67 CMR2 Coton de Tulear VMD2

Collie Eye Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Anomaly/ Multiple Acland GM, Ostrander EA. Breed relationships Choroidal gene facilitate fine-mapping studies: A 7.8-kb deletion Hypoplasia - CEA Australian Shepherd deletion cosegregates with Collie eye anomaly across Border Collie multiple dog breeds. Genome Res. 2007 Boykin Spaniel Nov;17(11):1562-71. Lancashire Heeler Nova Scotia Duck Tolling Retriever Rough Collie Shetland Sheepdog Smooth Collie Whippet, Longhaired

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. Canine CNGB3 mutations establish Cone cone degeneration as orthologous to the human Degeneration - German Shorthaired achromatopsia locus ACHM3. Hum Mol Genet CD Pointer CNGB3 11(16):1823-1833, 2002.

Aguirre GD, Baldwin V, Pearce-Kelling S, Congenital Narstrom K, Ray K, Acland GM. Congenital Stationary Night stationary night blindness in the dog: common Blindness mutation in the RPE65 gene indicates founder (Leber's) - CSNB Briard RPE65 effect. Molecular Vision 4:23, 1998.

Oculoskeletal Labrador Retriever Not Acland GM, Guyon R, Kukekova AV, Kouznetsova Dysplasia (OSD) named T, Johnson JL, Aguirre GD, Goldstein O. Canine drd1 Oculoskeletal Dysplasia Models Of Human Autosomal Recessive Stickler Syndrome. IOVS ARVO meeting 2008 poster #3109.

Oculoskeletal Dysplasia (OSD) Samoyed Not drd2 named Progressive Retinal Atrophy - mulitple genetic types of PRA

Mellersh CS, Boursnell ME, Pettitt L, Ryder EJ, Holmes NG, Grafham D, Forman P, Sampson J, cord1 – PRA Miniature Longhaired RPGRIP1 Barnett KC, Blanton S, Binns MM, Vaudin M. Dachshund Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics. 2006 Sep; 88(3):293-301. Wiik AC, Wade C, Biagi T, Ropstad EO, Bjerkås E, Lindblad-Toh K, Lingaas F. A deletion in cord – PRA Standard Wirehaired NPHP4 nephronophthisis 4 (NPHP4) is associated with Dachshund recessive cone-rod dystrophy in standard wirehaired dachshund. Genome Res. 2008 Sep;18(9):1415-21. Epub 2008 Aug 7.

Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Dominant – PRA Bull Mastiff Rho Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. PNAS 99(9):6328- 6333, 2002.

English Mastiff

Goldstein, Kukekova AV, Aguirre GD, Stone EM, Early retinal Norwegian Elkhound STK38L Slusarski DC, Baye L, Philp AR, Acland GM. The degeneration-erd Mutant Gene Causing Canine Early Retinal Degeneration Identifies A Novel Pathway Critical For Photoreceptor Development. IOVS ARVO meeting 2008 poster 4087

©2009, American College of Veterinary Ophthalmologists progressive rod- cone degeneration American Cocker 1) Zangerl B, Goldstein O, Philp AR, Lindauer SP, - prcd Spaniel prcd Pearce-Kelling SE, Mullins RF, Graphodatsky AS, American Eskimo Dog Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre Australian Cattle Dog GD. Identical mutation in a novel retinal gene Australian Shepherd causes progressive rod-cone degeneration in Australian Stumpy Tail dogs and retinitis pigmentosa in humans. Cattle Dog Genomics August 26, 2006, Epub. 2) Goldstein O, Chesapeake Bay Zangerl B, Sidjanin DJ, Kijas JW, Pearce-Kelling Retriever SE, McElwee J, Nelson JL, Felix JS, Acland GM, Chinese Crested Aguirre GD. Linkage disequilibrium mapping in English Cocker domestic dog breeds identifies the ancestral Spaniel disease chromosome transmitting progressive Entlebucher Mountain rod-cone degeneration (prcd). Genomics July 18, Dog 2006, Epub. Finnish Lapphund Golden Retriever Karelian Bear Dog Kuvasz Labrador Retriever Lapponian Herder Minature Poodle Nova Scotia Duck Tolling Retriever Portuguese Water Dog Spanish Water Dog Swedish Lapphund Toy Poodle Yorkshire Terrier

1) Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr Rod-cone Irish Setter PDE6β W, Hurwitz RL. Irish setter dogs affected with dysplasia 1 - rcd1 rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene. PNAS USA 90:3968-3972. 2) Ray K, Baldwin VJ, Acland GM, Blanton SH, Aguirre GD. Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase β gene and Irish Red & White rcd1. Inv Ophthalmol Vis Sci 35(13):4291-4299. Setter

Rod-cone Sloughi PDE6β Dekomien G, Runte M, Godde R, Epplen JT. dysplasia 1A - Generalized progressive retinal atrophy of Sloughi rcd1A dogs is due to an 8bp insertion in Exon 21 of the PDE6β gene. Cytogenet Cell Gen 90(3-4):261- 267, 2000.

Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, Swaroop A, Friedman JS, Aguirre GD, Acland GM.. Canine Rod-cone Rough collie RD3 mutation establishes rod-cone dysplasia type dysplasia 2 –rcd2 C1orf36 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome. 2009 Jan 9 epublication ahead of print.

Smooth collie Rod-cone Petersen-Jones SM, Entz DD, Sargan DR. cGMP dysplasia 3 - rcd3 Cardigan Welsh Corgi PDE6A phosphodiesterase-a mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Inv Ophthalmol Vis Sci 40(8):1637-1644, 1999.

not Type A PRA Miniature Schnauzer named Personal Communication, Acland, Aguirre et al.

Zhang Q, Acland GM, Wu WX, Johnson JL, X-Linked PRA Samoyed RPGR Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11(9):993-1003, 2002 Siberian Husky

Gene Disorder Breed Name Reference

Mellersh CS, Pettitt L, Forman OP, Cataracts – Vaudin M, Barnett KC. Identification Hereditary Australian Shepherd HSF4 of mutations in HSF4 in dogs of three different breeds with hereditary cataracts Veterinary Ophthalmology (2006) 9, 5, 369–378.

Boston Terrier

French Bulldog

Staffordshire Bull Terrier

D. Additional Genetic Tests and Research Sample Requests (as of January 31, 2009)

1. Dr Simon Petersen-Jones: a. Ocular Melanosis –Cairn Terrier We are doing research on ocular melanosis in Cairn Terriers (funded by the Cairn Terrier Club of America) and are soliciting samples from affected dogs and their relatives. Please contact Dr Simon Petersen-Jones for detailed sampling instructions. b. PRA We are researching and actively seeking DNA samples and information from any breed with a PRA problem for which the gene mutation has not been identified, including the following breeds: (funded by the AKC-Canine Health Foundation and associated breed clubs) Belgian Tervurens Chinese Crested (non-prcd PRA) Collies Irish Wolfhounds Italian Greyhounds Miniature longhaired dachshunds Old English Sheepdogs Papillons Tibetan Terriers c. Rod/cone dysplasia type3(rcd3)- Cardigan Welsh Corgis (due to a PDE6A mutation). This test is performed from cheek swabs or blood samples. Information and forms can be obtained from the web site of the Cardigan Welsh Corgi Club of America web site: www.cardigancorgis.com/PRAPressRelease.aspx and/or Optigen

a. PRA –all breeds Optigen will test at no charge any pure bred dog that has a definitive diagnosis of PRA (not suspicious) if the pedigree (4-5 generations) can be provided with the eye exam report. See http://www.optigen.com/opt9_research.html for more details. b. Cataracts-Posterior Polar Subcapsular (PPS) We are seeking samples from dogs diagnosed with bilateral PPS cataracts between the ages of 1.5 and 3 years the following breeds: Golden Retrievers, Labrador Retrievers, Rottweilers, Bernese Mountain Dogs, and English Springer Spaniels. c. Cataracts-Posterior Polar Cortical (PPC) We are seeking samples from dogs diagnosed with bilateral PPC cataracts between the ages of 1. and 3 years the following breeds: Siberian Husky, Samoyed and the Alaskan Malamute. d. Geographic Retinal Folds—Cavalier King Charles Spaniels

Interactive distance-education course on canine genetics intended for dog enthusiasts. This course is no longer being offered however, the CD is apparently still available for purchase. For more information contact: Department of Animal Science, B47 Morrison Hall Cornell University Ithaca, NY 14853 USA Tel: (607) 255-4416 Fax:(607)254-5413 email: http://www.ansci.cornell.edu/cat/cg01/dogcourses.html or John Pollack: [email protected]

AFFENPINSCHER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 2 Breeder option

B. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Affenpinscher breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

AFFENPINSCHER

1991 - 1999 2000-2007 TOTAL NUMBER OF AFFENPINSCHER EXAMINED 52 107

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 1.92% EYELIDS DISTICHIASIS 4 7.69% 5 4.67% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 1.92% 1 0.93% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 3.85% 5 4.67% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.93% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 3 5.77% 1 0.93% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.92% ANTERIOR CORTEX INTERMEDIATE* 10.93% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.93% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.92% POSTERIOR CORTEX PUNCTATE* 1 1.92% POSTERIOR CORTEX INTERMEDIATE* 2 3.85% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.92% CAPSULAR SIGN. UNKNOWN 32.80% POSTERIOR CAPSULE SIGN. UNKNOWN 1 1.92% GENERALIZED CATARACT* 2 3.85% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 10.93% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 21.87% OTHER OTHER, INHERITED 1 1.92% OTHER, NON -INHERITED 1 1.92% 4 3.74% NORMAL NORMAL 41 78.85% 93 86.92%

Note: 1. PERCENTAGES ARE BASED ON THE TOTAL NUMBER OF DOGS FOR THE BREED THAT HAVE BEEN REPORTED. 2. THE "ANY CATARACT DIAGNOSED" CATEGORY COUNTS ANY INDIVIDUAL DOG FOR A GIVEN YEAR ONLY ONCE AND INCLUDES ONLY CATARACTS THAT ARE CONSIDERED SIGNIFICANT. AFGHAN HOUND - 1

AFGHAN HOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 7 Breeder option

B. Corneal dystrophy Not defined 1,2 Breeder option - epithelial/stromal

C. Persistent pupillary Not defined 1 Breeder option membranes - iris to iris

D. Cataract Not defined 1,3-6 NO

Description and Comments

A. Distichiasis

B. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or from sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region.

The characteristic cataract in the Afghan hound begins as equatorial lens vacuoles in dogs from 4 months to 2 years of age. The opacities then extend into the anterior and posterior cortices. Rapid progression can occur with visual impairment in young adults. Test breedings have been done which support a hereditary basis; however, the exact mode of inheritance is unknown.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Vainisi SJ, Goldberg MF: Animal models of inherited eye diseases. In: Genetic and Metabolic Eye Disease, Little Brown and Company: Boston, 1974.

3. Roberts SR, Helper LC: Cataracts in Afghan hounds. J Am Vet Med Assoc 160: 427, 1972.

4. Roberts SR: Hereditary cataracts. Vet Clin North Am 3: 433, 1973.

5. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

6. Barnett KC: Hereditary cataract in the dog. J Small Anim Pract 19:109, 1978. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

AFGHAN HOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF AFGHAN HOUND EXAMINED 800 609

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 1 0.13% EYELIDS ENTROPION 2 0.25% DISTICHIASIS 12 1.50% 5 0.82% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 75 9.38% 63 10.34% DYSTROPHY--ENDOTHELIAL 10.16% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.25% UVEA IRIS / CILIARY BODY CYSTS 30.49% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 10 1.25% 20 3.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.16% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.13% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.13% 1 0.16% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 15 1.88% 10 1.64% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.13% ANTERIOR CORTEX INTERMEDIATE* 1 0.13% 3 0.49% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 0.50% 5 0.82% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.13% POSTERIOR CORTEX INTERMEDIATE* 10.16% POSTERIOR CORTEX DIFFUSE* 1 0.13% POSTERIOR CORTEX SUSPICIOUS 1 0.13% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.25% 2 0.33% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.13% EQUATORIAL CORTEX PUNCTATE* 10.16% EQUATORIAL CORTEX INTERMEDIATE* 10.16% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.25% 1 0.16% ANTERIOR SUTURES INTERMEDIATE* 1 0.13% 1 0.16% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.38% 2 0.33% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 3 0.38% POSTERIOR SUTURES PUNCTATE* 10.16% POSTERIOR SUTURES INTERMEDIATE* 5 0.63% 4 0.66% POSTERIOR SUTURES SUSPICIOUS 3 0.38% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 17 2.13% 17 2.79% NUCLEUS (SIZE UNSPECIFIED)* 2 0.25% NUCLEUS INTERMEDIATE* 2 0.25% 1 0.16% NUCLEUS DIFFUSE* 10.16% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.38% 5 0.82% ANTERIOR CAPSULE 1 0.13% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.13% CAPSULAR PUNCTATE 10.16% CAPSULAR INTERMEDIATE 10.16% CAPSULAR SIGN. UNKNOWN 91.48% POSTERIOR CAPSULE SIGN. UNKNOWN 3 0.38%

AFGHAN HOUND

1991 - 1999 2000-2007 SUBLUXATION/LUXATION 10.16% VITREOUS PHPV/PTVL 10.16% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.13% 2 0.33% DEGENERATION ANTERIOR CHAMBER 20.33% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.13% 2 0.33% RETINAL ATROPHY--SUSPICIOUS 3 0.38% RETINAL DYSPLASIA FOCAL/FOLDS 40.66% STAPHYLOMA / COLOBOMA 1 0.13% 1 0.16% OPTIC NERVE COLOBOMA 30.49% OTHER OTHER, INHERITED 9 1.13% 2 0.33% OTHER, NON -INHERITED 4 0.50% 27 4.43% NORMAL NORMAL 647 80.88% 487 79.97%

AIREDALE TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4 Breeder option

B. Corneal dystrophy Presumed 1-3 Breeder option -epithelial/stromal sex-linked recessive

C. Persistent pupillary Membranes iris to iris Not defined 1,5 Breeder option all other forms Not defined 5 NO

D. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

In the Airedale, the age of onset is 9-11 months with dense axial accumulation of lipids resulting in corneal opacity. The condition may progress with vision impairment noted by 3-4 years of age. Pedigrees suggest a sex-linked recessive mode of inheritance but this is not conclusive.

C. Persistent pupillary membranes (PPM)

D. Cataract

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Dice PF: Corneal dystrophy in the Airedale. Proc Am Coll Vet Ophthalmol, Fifth Annual Scientific Program, 1974: 80-86.

3. Cooley P, Dice P: Corneal dystrophy in the dog and cat. Vet Clin North Amer 20:681, 1990.

4. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

5. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

AIREDALE TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF AIREDALE TERRIER EXAMINED 317 239

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 3 0.95% EYELIDS ENTROPION 1 0.32% 3 1.26% DISTICHIASIS 19 5.99% 17 7.11% ECTOPIC CILIA 2 0.63% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 7 2.21% 1 0.42% DYSTROPHY--ENDOTHELIAL 3 0.95% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.32% UVEA IRIS / CILIARY BODY CYSTS 10.42% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 9 2.84% 9 3.77% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.95% 3 1.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 14 4.42% 3 1.26% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.63% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 23 7.26% 14 5.86% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.32% ANTERIOR CORTEX PUNCTATE* 4 1.26% 1 0.42% ANTERIOR CORTEX INTERMEDIATE* 3 0.95% 5 2.09% ANTERIOR CORTEX DIFFUSE* 1 0.32% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 2.21% 10 4.18% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.95% POSTERIOR CORTEX PUNCTATE* 2 0.63% 2 0.84% POSTERIOR CORTEX INTERMEDIATE* 5 1.58% 4 1.67% POST. CORTEX PUNCT. SIGN. UNKNOWN 31.26% EQUATORIAL CORTEX PUNCTATE* 2 0.63% EQUATORIAL CORTEX INTERMEDIATE* 2 0.63% 3 1.26% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.32% POSTERIOR SUTURES PUNCTATE* 1 0.32% 1 0.42% POSTERIOR SUTURES INTERMEDIATE* 2 0.63% 1 0.42% POSTERIOR SUTURES SUSPICIOUS 1 0.32% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.95% 4 1.67% NUCLEUS INTERMEDIATE* 20.84% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.84% CAPSULAR PUNCTATE 1 0.32% CAPSULAR INTERMEDIATE 10.42% CAPSULAR SIGN. UNKNOWN 72.93% POSTERIOR CAPSULE 2 0.63% GENERALIZED CATARACT* 3 0.95% VITREOUS PERSISTENT HYALOID ARTERY 3 0.95% PHPV/PTVL 1 0.32% DEGENERATION SYNERESIS 20.84%

AIREDALE TERRIER

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 5 1.58% RETINAL ATROPHY--SUSPICIOUS 4 1.26% 1 0.42% RETINAL DYSPLASIA FOCAL/FOLDS 8 2.52% 6 2.51% RETINAL DYSPLASIA GEOGRAPHIC 4 1.26% 1 0.42% STAPHYLOMA / COLOBOMA 1 0.32% RETINAL DETACHMENT 1 0.32% OTHER OTHER, INHERITED 2 0.63% 3 1.26% OTHER, NON -INHERITED 5 1.58% 26 10.88% NORMAL NORMAL 226 71.29% 174 72.80%

AKBASH

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

Description and Comments

A. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Akbash breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

AKBASH

1991 - 1999 2000-2007 TOTAL NUMBER OF AKBASH EXAMINED 25 3

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 4.00% EYELIDS ENTROPION 3 12.00% UVEA IRIS / CILIARY BODY CYSTS 1 4.00% 1 33.33% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 4.00% EQUATORIAL CORTEX PUNCTATE* 1 4.00% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 4.00% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 4.00% NUCLEUS INTERMEDIATE* 1 4.00% NUCLEUS DIFFUSE* 1 4.00% VITREOUS PERSISTENT HYALOID ARTERY 1 4.00% NORMAL NORMAL 19 76.00% 2 66.67%

AKITA

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Strabismus Not defined 17 NO

B. Microphthalmia with Not defined 1,2 NO multiple ocular defects

C. Entropion Not defined 1,3 Breeder option

D. Distichiasis Not defined 16 Breeder option

E. Persistent pupillary membranes - iris to iris Not defined 1 Breeder option - all other forms Not defined 1,15 NO

F. Uveodermatologic Not defined 1, 4-12 NO syndrome

G. Cataract Not defined 1 NO

H. Retinal dysplasia Not defined 1 Breeder option - folds

I. Retinal atrophy Not defined 1,13,14 NO - generalized

Description and Comments

A. Strabismus

Strabismus is characterized as the deviation of one or both eyes from the normal position; the eyes may turn in, out, up or down. In Akitas, a severe uni- or bilateral ventral (down) or ventromedial (down and in) strabismus has been described with resulting vision loss. The strabismus was caused by restrictive fibrosis (scarring) of the extraocular muscles (the muscles that rotate the eye in different directions), possibly due to chronic inflammation (extraocular myositis).

B. Microphthalmia with multiple ocular defects

Multiple ocular defects consisting of small eye (microphthalmia), opacity of the lens (cataract), conical shape of the posterior lens ( posterior lenticonus), and folding of the retina into rosettes (retinal dysplasia) have been reported in related Akita pups. Cataracts affected primarily the nuclear and cortical lens. Retinal dysplasia affected the superior retina overlying the tapetal fundus. Affected dogs may have severe visual dysfunction. An autosomal recessive mode of inheritance is suspected but not proven.

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. CERF data indicates that entropion in the Akita usually occurs by 2 years of age.

D. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make strong recommendations with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

E. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally during the first three months of life. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

In the Akita, many of these strands bridge between the iris and lens thus resulting in focal cataract and possible vision impairment.

F. Uveodermatologic syndrome

Uveodermatologic syndrome in the Akita bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune-mediated disease in which pigmented cells (melanocytes) in the eye and in the skin are destroyed by white blood cells (lymphocytes). The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. Whitening of the hair (poliosis) and skin (vitiligo) may also be noted in advanced cases. The genetics of this condition are unclear, but some genetic predisposition is indicated by the higher prevalence of this disorder in Akitas compared with other dog breeds. Affected dogs are generally young, ranging in age between 1 ½ to 4 years.

G. Cataract

Lens opacity which may affect one or both eyes and may involve the lens partially or completely. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membranes, persistent hyaloid or nutritional deficiencies.

H. Retinal Dysplasia- folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. It's significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and the more severe forms of retinal dysplasia is undetermined.

I. Retinal atrophy-generalized

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as Progressive Retinal Atrophy or PRA, may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. Except for X-linked PRA in the Siberian Husky, in all breeds studied to date, PRA is inherited as an autosomal recessive trait.

The age of onset has been reported to be between 2 and 3 years of age with initial loss of night vision progressing to complete blindness.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Laratta LJ, Riis RC, Kern TJ, Koch SA: Multiple ocular defects in the Akita dog. Cornell Vet 75, 381-392, 1985.

3. Startup FG: Hereditary eye problems in the Japanese Akita. Vet Rec 118:251, 1986.

4. Asakura S, Takahasi K, Onishi T: Vogt-Koyanagi-Harada syndrome (uveitis diffusa acuta) in the dog. Japanese J Vet Med 673:445-455, 1977.

5. Bussanich J: Granulomatous panuveitis and dermal depigmentation in dogs. J Am Anim Hosp Assoc 22:121, 1986.

6. Kern TJ, Walton DK, Riis RC: Uveitis associated with poliosis and vitiligo in six dogs. J Am Vet Med Assoc 187:408-414, 1985.

7. Romatowski J: A uveodermatological syndrome in an Akita dog. J Am Anim Hosp Assoc 21:777, 1985.

8. Campbell KL, McLaughlin SA, Reynolds HA: Generalized leukoderma and poliosis following uveitis in a dog. J Am Anim Hosp Assoc 22:121, 1986.

9. Cottrell BD, Barnett KC: Harada disease in the Japanese Akita. J Small Anim Pract 28:517,1987.

10. Bellhorn RW, Murphy CL, Thirkill CE: Antiretinal immunoglobulins in canine ocular diseases. Semin Vet Med Surg 3:28, 1988.

11. Murphy CJ, Bellhorn RW: Anti-retinal antibodies associated with Vogt-Koyanagi-Harada-like syndrome in a dog. J Am Anim Hosp Assoc 27:399, 1991.

12. Morgan RV: Vogt-Koyanagi-Harada syndrome in humans and dogs. Comp Cont Educ Pract Vet 11, 1211-1217, 1989.

13. O'Toole DO, Roberts S: Generalized progressive retinal atrophy in two Akita dogs. Vet Pathol 21:457-462, 1984.

14. Paulsen ME, Severin GA, Young S, et al: Progressive retinal atrophy in a colony of Akita dogs. Trans Am Col Vet Ophthalmol 19, 1-4, 1988.

15. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

16. ACVO Genetics Committee, 2006 and/or Data from CERF All-Breeds Report, 2001-2005.

17. Allgoewer I, Blair M, Basher T, Davidson M, Hamilton H, Jandeck C, Ward D, Wolfer J, Shelton GD. Extraocular muscle myositis and restrictive strabismus in 10 dogs. Vet Ophthalmol. 2000;3(1):21-26.

AKITA

1991 - 1999 2000-2007 TOTAL NUMBER OF AKITA EXAMINED 5124 3547

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 20 0.39% 10 0.28% GLAUCOMA 2 0.04% EYELIDS ENTROPION 58 1.13% 38 1.07% ECTROPION 9 0.18% 4 0.11% DISTICHIASIS 23 0.45% 20 0.56% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.06% 3 0.08% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 6 0.12% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 25 0.49% 20 0.56% UVEA IRIS / CILIARY BODY CYSTS 10.03% IRIS COLOBOMA 1 0.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 110 2.15% 97 2.73% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 22 0.43% 10 0.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10 0.20% 9 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.04% 1 0.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 87 1.70% 28 0.79% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.10% ANTERIOR CORTEX PUNCTATE* 3 0.06% 1 0.03% ANTERIOR CORTEX INTERMEDIATE* 8 0.16% ANTERIOR CORTEX DIFFUSE* 2 0.04% ANTERIOR CORTEX SUSPICIOUS 2 0.04% ANT. CORTEX PUNCT. SIGN. UNKNOWN 20 0.39% 15 0.42% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.10% POSTERIOR CORTEX PUNCTATE* 4 0.08% 2 0.06% POSTERIOR CORTEX INTERMEDIATE* 22 0.43% 10 0.28% POSTERIOR CORTEX DIFFUSE* 4 0.08% POST. CORTEX PUNCT. SIGN. UNKNOWN 10 0.20% 9 0.25% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.02% EQUATORIAL CORTEX PUNCTATE* 2 0.04% 1 0.03% EQUATORIAL CORTEX INTERMEDIATE* 5 0.10% 2 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.06% 1 0.03% ANTERIOR SUTURES PUNCTATE* 10.03% ANTERIOR SUTURES INTERMEDIATE* 2 0.04% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.06% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 3 0.06% POSTERIOR SUTURES PUNCTATE* 13 0.25% 8 0.23% POSTERIOR SUTURES INTERMEDIATE* 7 0.14% 4 0.11% POSTERIOR SUTURES DIFFUSE* 2 0.04% POSTERIOR SUTURES SUSPICIOUS 3 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 21 0.41% 30 0.85%

AKITA

1991 - 1999 2000-2007 NUCLEUS (SIZE UNSPECIFIED)* 2 0.04% NUCLEUS PUNCTATE* 1 0.02% NUCLEUS INTERMEDIATE* 5 0.10% 1 0.03% NUCLEUS DIFFUSE* 3 0.06% NUCLEUS SUSPICIOUS 1 0.02% NUCLEUS PUNCTATE SIGN. UNKNOWN 6 0.12% 2 0.06% ANTERIOR CAPSULE 1 0.02% ANTERIOR CAPSULE SUSPICIOUS 2 0.04% CAPSULAR PUNCTATE 30.08% CAPSULAR INTERMEDIATE 2 0.04% 1 0.03% CAPSULAR SIGN. UNKNOWN 7 0.14% 47 1.33% POSTERIOR CAPSULE 6 0.12% POSTERIOR CAPSULE SIGN. UNKNOWN 5 0.10% POSTERIOR CAPSULE SUSPICIOUS 3 0.06% GENERALIZED CATARACT* 9 0.18% 2 0.06% SUBLUXATION/LUXATION 1 0.02% VITREOUS PERSISTENT HYALOID ARTERY 9 0.18% 3 0.08% PHPV/PTVL 4 0.08% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.04% 2 0.06% DEGENERATION ANTERIOR CHAMBER 10.03% DEGENERATION SYNERESIS 10.03% FUNDUS RETINAL ATROPHY--GENERALIZED 16 0.31% 5 0.14% RETINAL ATROPHY--SUSPICIOUS 48 0.94% 14 0.39% RETINAL DYSPLASIA FOCAL/FOLDS 103 2.01% 65 1.83% RETINAL DYSPLASIA GEOGRAPHIC 11 0.21% 8 0.23% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.04% 2 0.06% RETINAL DETACHMENT 5 0.10% 1 0.03% OPTIC NERVE COLOBOMA 2 0.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.06% 1 0.03% OPTIC NERVE HYPOPLASIA 20.06% OTHER OTHER, INHERITED 54 1.05% 10 0.28% OTHER, NON -INHERITED 13 0.25% 142 4.00% NORMAL NORMAL 4550 88.80% 3188 89.88%

ALASKAN KLEE KAI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membrane - iris to iris Not defined 1 Breeder option - iris sheets Not defined 2,3 No

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Alaskan Klee Kai breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

2. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

ALASKAN KLEE KAI

1991 - 1999 2000-2007 TOTAL NUMBER OF ALASKAN KLEE KAI EXAMINED 26 59

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 3.85% 1 1.69% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 11.69% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 11.69% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 58.47% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 35.08% ANTERIOR CORTEX INTERMEDIATE* 23.39% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 3.85% 3 5.08% POSTERIOR CORTEX INTERMEDIATE* 11.69% VITREOUS DEGENERATION SYNERESIS 11.69% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 3.85% OTHER OTHER, NON -INHERITED 1 3.85% 1 1.69% NORMAL NORMAL 24 92.31% 55 93.22%

ALASKAN MALAMUTE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 10 Breeder option -epithelial/stromal

C. Glaucoma Not defined 1,9 NO

D. Persistent pupillary membranes -iris to iris Not defined 1,10 Breeder option -iris to lens Not defined 10 NO -all other forms Not defined 10 NO

E. Cataract Not defined 1 NO

F. Retinal degeneration Presumed 1-8,11,12 NO day blindness autosomal recessive

G. Retinal dysplasia Not defined 1 Breeder option -folds

Descriptions and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma require measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal degeneration- day blindness (also called hemeralopia)

Selective degeneration of cone photoreceptors resulting in greater vision impairment in bright light. This condition has been described in the Alaskan malamute but occurs rarely.

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Rubin LF, Bourne TKR, Lord LH: Hemeralopia in dogs: Heredity of hemeralopia in Alaska malamutes. Am J Vet Res 28:355, 1967.

3. Rubin LF: Clinical features of hemeralopia in the adult Alaskan malamute. J Am Vet Med Assoc 158:1696, 1971.

4. Rubin LF: Hemeralopia in Alaskan malamute pups. J Am Vet Med Assoc 158:1699, 1971.

5. Aguirre GD, Rubin LF: Pathology of hemeralopia in the Alaskan malamute dog. Invest Ophthalmol Vis Sci 13:231, 1974.

6. Aguirre GD, Rubin LF: The electroretinogram in dogs with inherited cone degeneration. Invest Ophthal Vis Sci 14:840, 1975.

7. Rubin LF: Hemeralopia in dogs. Trans Am Acad Ophthalmol Otolaryngol 81:667, 1976.

8. Aguirre GD, Rubin LF: Postnatal development of the retina in Alaskan malamute dogs with inherited cone degeneration. Proc Am Coll Vet Ophthalmol 8:51, 1977

9. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

10. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

11. Stanley R, Acland G: Cone Degeneration in Alaskan Malamutes: Clinical and Electroretinographic Findings. Proc Europ Coll Vet Ophthalmol, p. 27, 2001.

12. Seddon JM, Hampson ECGM, Smith RIE, Hughes IP: Genetic heterogeneity of day blindness in Alaskan Malamute. Animal Genetics 37, 407-410, 2006.

CERF OCULAR DISORDERS REPORT

ALASKAN MALAMUTE

1991 - 1999 2000-2007 TOTAL NUMBER OF ALASKAN MALAMUTE EXAMINED 3490 3026

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.03% DRY EYE 2 0.06% GLAUCOMA 1 0.03% EYELIDS ENTROPION 1 0.03% 4 0.13% ECTROPION 1 0.03% DISTICHIASIS 66 1.89% 60 1.98% ECTOPIC CILIA 1 0.03% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 29 0.83% 30 0.99% UVEA IRIS / CILIARY BODY CYSTS 3 0.09% 3 0.10% IRIS COLOBOMA 30.10% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 133 3.81% 260 8.59% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 7 0.20% 23 0.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.09% 6 0.20% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.06% 1 0.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 367 10.52% 227 7.50% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.23% ANTERIOR CORTEX PUNCTATE* 9 0.26% 8 0.26% ANTERIOR CORTEX INTERMEDIATE* 8 0.23% 12 0.40% ANTERIOR CORTEX DIFFUSE* 3 0.09% 3 0.10% ANTERIOR CORTEX SUSPICIOUS 1 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 21 0.60% 25 0.83% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 61 1.75% POSTERIOR CORTEX PUNCTATE* 79 2.26% 29 0.96% POSTERIOR CORTEX INTERMEDIATE* 148 4.24% 123 4.06% POSTERIOR CORTEX DIFFUSE* 23 0.66% 13 0.43% POSTERIOR CORTEX SUSPICIOUS 8 0.23% POST. CORTEX PUNCT. SIGN. UNKNOWN 20 0.57% 13 0.43% POSTERIOR CORTEX DIFFUSE SIGN. UNKNOWN 10.03% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 5 0.14% EQUATORIAL CORTEX PUNCTATE* 6 0.17% 5 0.17% EQUATORIAL CORTEX INTERMEDIATE* 14 0.40% 14 0.46% EQUATORIAL CORTEX DIFFUSE* 3 0.09% 4 0.13% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 8 0.23% 12 0.40% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.11% ANTERIOR SUTURES PUNCTATE* 5 0.14% 9 0.30% ANTERIOR SUTURES INTERMEDIATE* 4 0.11% 3 0.10% ANTERIOR SUTURES DIFFUSE* 1 0.03% 2 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.09% 7 0.23% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 16 0.46%

ALASKAN MALAMUTE

1991 - 1999 2000-2007 POSTERIOR SUTURES PUNCTATE* 27 0.77% 23 0.76% POSTERIOR SUTURES INTERMEDIATE* 30 0.86% 31 1.02% POSTERIOR SUTURES DIFFUSE* 2 0.06% 1 0.03% POSTERIOR SUTURES SUSPICIOUS 2 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20 0.57% 14 0.46% NUCLEUS (SIZE UNSPECIFIED)* 6 0.17% NUCLEUS PUNCTATE* 3 0.09% 2 0.07% NUCLEUS INTERMEDIATE* 8 0.23% 4 0.13% NUCLEUS DIFFUSE* 3 0.09% 3 0.10% NUCLEUS PUNCTATE SIGN. UNKNOWN 13 0.37% 17 0.56% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.03% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% CAPSULAR PUNCTATE 1 0.03% 19 0.63% CAPSULAR INTERMEDIATE 3 0.09% 25 0.83% CAPSULAR DIFFUSE 50.17% CAPSULAR SIGN. UNKNOWN 7 0.20% 53 1.75% POSTERIOR CAPSULE 19 0.54% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.06% POSTERIOR CAPSULE SUSPICIOUS 6 0.17% GENERALIZED CATARACT* 8 0.23% 2 0.07% SUBLUXATION/LUXATION 3 0.09% VITREOUS PERSISTENT HYALOID ARTERY 4 0.11% 5 0.17% PHPV/PTVL 5 0.14% 1 0.03% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.09% 4 0.13% DEGENERATION ANTERIOR CHAMBER 10.03% DEGENERATION SYNERESIS 30.10% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.06% 4 0.13% RETINAL ATROPHY--SUSPICIOUS 4 0.11% 5 0.17% RETINAL DYSPLASIA FOCAL/FOLDS 22 0.63% 30 0.99% RETINAL DYSPLASIA GEOGRAPHIC 10 0.29% 7 0.23% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.03% 1 0.03% CHOROIDAL HYPOPLASIA 20.07% STAPHYLOMA / COLOBOMA 1 0.03% RETINAL DETACHMENT 2 0.06% 3 0.10% RETINAL HEMORRHAGE 2 0.06% OPTIC NERVE COLOBOMA 1 0.03% 1 0.03% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 0.14% OPTIC NERVE HYPOPLASIA 30.10% MICROPAPILLA 20.07% OTHER OTHER, INHERITED 33 0.95% 13 0.43% OTHER, NON -INHERITED 9 0.26% 222 7.34% NORMAL NORMAL 2760 79.08% 2371 78.35%

AMERICAN ESKIMO DOG (all varieties)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 2 Breeder option membrane - iris to iris

B. Cataract Not defined 1 NO

C. Retinal atrophy Autosomal 1,3 NO - generalized (prcd) recessive

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Retinal atrophy-generalized (PRA)

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as progressive retinal atrophy or PRA, may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. Except for X-linked PRA in the Siberian Husky, in all breeds studied to date, PRA is inherited as an autosomal recessive trait.

There are cases reported in the United States and Canada. Animals at the 3-5 year age range have had ophthalmoscopically typical signs of diffuse retinal degeneration which can be confirmed by electroretinography. Clinically there were only subtle signs of night blindness in the younger animals. Owners have reported obvious night and day blindness in animals at 5-6 years of age. Recent evaluation of pedigrees from all varieties for the mode of inheritance suggests a simple autosomal recessive. Because of the significance of blindness, suspicious and affected animals are not to be recommended for breeding foundation. Parents of affected animals should be presumed to be carriers and siblings of affected animals should not be used as breed foundation.

For DNA testing contact Optigen®: prcd-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the American Eskimo dog breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

3. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

AMERICAN ESKIMO

1991 - 1999 2000-2007 TOTAL NUMBER OF AMERICAN ESKIMO EXAMINED 990 1112

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 4 0.40% DISTICHIASIS 9 0.91% 4 0.36% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.10% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.40% 4 0.36% DYSTROPHY--ENDOTHELIAL 1 0.10% 3 0.27% UVEA IRIS / CILIARY BODY CYSTS 1 0.10% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 0.81% 9 0.81% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.10% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.30% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 4 0.40% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 28 2.83% 49 4.41% ANTERIOR CORTEX PUNCTATE* 8 0.81% 12 1.08% ANTERIOR CORTEX INTERMEDIATE* 3 0.30% 13 1.17% ANTERIOR CORTEX DIFFUSE* 10.09% ANT. CORTEX PUNCT. SIGN. UNKNOWN 15 1.52% 31 2.79% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.10% POSTERIOR CORTEX PUNCTATE* 2 0.20% 4 0.36% POSTERIOR CORTEX INTERMEDIATE* 5 0.51% 15 1.35% POSTERIOR CORTEX DIFFUSE* 20.18% POST. CORTEX PUNCT. SIGN. UNKNOWN 3 0.30% 6 0.54% EQUATORIAL CORTEX PUNCTATE* 1 0.10% 3 0.27% EQUATORIAL CORTEX INTERMEDIATE* 2 0.20% 7 0.63% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.20% 6 0.54% ANTERIOR SUTURES PUNCTATE* 1 0.10% 1 0.09% ANTERIOR SUTURES INTERMEDIATE* 50.45% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.30% 3 0.27% POSTERIOR SUTURES PUNCTATE* 3 0.30% 1 0.09% POSTERIOR SUTURES INTERMEDIATE* 1 0.10% 1 0.09% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.10% 13 1.17% NUCLEUS (SIZE UNSPECIFIED)* 2 0.20% NUCLEUS PUNCTATE* 2 0.20% 1 0.09% NUCLEUS INTERMEDIATE* 30.27% NUCLEUS PUNCTATE SIGN. UNKNOWN 8 0.81% 2 0.18% CAPSULAR PUNCTATE 30.27% CAPSULAR INTERMEDIATE 50.45% CAPSULAR DIFFUSE 10.09% CAPSULAR SIGN. UNKNOWN 2 0.20% 5 0.45% GENERALIZED CATARACT* 5 0.51% 1 0.09% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.10% SUBLUXATION/LUXATION 10.09%

AMERICAN ESKIMO

1991 - 1999 2000-2007 VITREOUS PERSISTENT HYALOID ARTERY 3 0.30% 2 0.18% PHPV/PTVL 10.09% DEGENERATION (NO FURTHER SPECIFICATION) 6 0.61% 7 0.63% DEGENERATION SYNERESIS 20.18% FUNDUS RETINAL ATROPHY--GENERALIZED 46 4.65% 42 3.78% RETINAL ATROPHY--SUSPICIOUS 38 3.84% 46 4.14% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.40% 4 0.36% RETINAL DYSPLASIA GEOGRAPHIC 2 0.20% RETINAL DETACHMENT 1 0.10% OPTIC NERVE COLOBOMA 2 0.20% 1 0.09% OTHER OTHER, INHERITED 5 0.51% 6 0.54% OTHER, NON -INHERITED 12 1.21% 70 6.29% NORMAL NORMAL 810 81.82% 869 78.15%

AMERICAN LAMALESE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the American Lamalese breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

AMERICAN LAMALESE

1991 - 1999 2000-2007 TOTAL NUMBER OF AMERICAN LAMALESE EXAMINED 52 16

Diagnosic Name Number Percent Number Percent THIRD EYELID GLAND PROLAPSE 16.25% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 7.69% 3 18.75% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 5.77% 1 6.25% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 3.85% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 3 5.77% ANTERIOR CORTEX INTERMEDIATE* 1 1.92% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 3.85% POSTERIOR CORTEX PUNCTATE* 2 3.85% POSTERIOR CORTEX INTERMEDIATE* 1 1.92% EQUATORIAL CORTEX INTERMEDIATE* 1 1.92% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 1.92% ANTERIOR SUTURES INTERMEDIATE* 1 1.92% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 5.77% CAPSULAR SIGN. UNKNOWN 16.25% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 1.92% 1 6.25% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 2 3.85% OTHER OTHER, NON -INHERITED 16.25% NORMAL NORMAL 36 69.23% 12 75.00%

AMERICAN PIT BULL TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Not defined 1 NO Cone-rod dystrophy 1 (crd1) and cone-rod dystrophy 2 (crd2)

Description and Comments

A. Retinal atrophy-generalized

References

1. Kijas JW, Zangerl B, Miller B, et al: Cloning of the canine ABCA4 gene and evaluation in the canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis 10:223-232, 2004.

AMERICAN PIT BULL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF AMERICAN PIT BULL TERRIER EXAMINED 14 107

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 43.74% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 7.14% DYSTROPHY--ENDOTHELIAL 1 7.14% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 7.14% 1 0.93% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 7.14% 1 0.93% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 7.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 21.87% ANT. CORTEX PUNCT. SIGN. UNKNOWN 21.87% POSTERIOR CORTEX PUNCTATE* 10.93% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.93% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.93% POSTERIOR SUTURES PUNCTATE* 10.93% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.93% SUBLUXATION/LUXATION 10.93% FUNDUS RETINAL ATROPHY--GENERALIZED 1 7.14% RETINAL DYSPLASIA FOCAL/FOLDS 21.87% RETINAL DYSPLASIA GEOGRAPHIC 10.93% OTHER OTHER, NON -INHERITED 98.41% NORMAL NORMAL 11 78.57% 94 87.85%

*** AMERICAN STAFFORDSHIRE TERRIER

*** Please note that since 1972 the AKC considers the Staffordshire Bull Terrier a different breed than the American Staffordshire Terrier. Since the latter breed evolved from the former, it is possible that the same genetic diseases exist in both.

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 Breeder option

B. Distichiasis Not defined 7 Breeder option

C. Persistent pupillary Not defined 6,7 Breeder option membranes -iris to iris

D. Cataract Not defined 1-3 NO

E. Persistent hyperplastic Not defined 1,4,5 NO primary vitreous/ persistent hyperplastic tunica vasculosa lentis

F. Retinal dysplasia, Not defined 7 Breeder option -folds

G. Retinal Atrophy Not defined 8 NO -generalized

Description and Comments

A. Entropion

A conformational defect resulting in "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull. Selection should be directed against entropion and toward a head conformation that minimizes or eliminates the likelihood of the defect.

B. Distichiasis

C. Persistent pupillary membranes (PPM)

D. Cataract

In this breed, cataracts usually develop by one year of age. There is initial opacification of the suture lines progressing to nuclear and cortical cataract formation; complete cataracts and blindness develop by three years of age. A simple autosomal recessive mode of inheritance has been proposed; however, the genetics have not been defined and additional studies will be required.

E. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

Persistent hyperplastic primary vitreous is a congenital defect resulting from abnormalities in the development and regression of the hyaloid artery (the primary vitreous) and the interaction of this blood vessel with the posterior lens capsule/cortex during embryogenesis. This condition is often associated with persistent hyperplastic tunica vasculosa lentis which results from failure of regression of the embryologic vascular network which surrounds the developing lens.

The majority of affected dogs have a retrolental fibrovascular plaque and variable lenticular defects which include posterior lenticonus/globus, colobomata, intralenticular hemorrhage and/or secondary cataracts. Vision impairment may result. The disease is an inherited disorder in the breed, but the mode of inheritance has not been defined. The results of current studies cannot rule out autosomal recessive or a dominant trait with incomplete penetrance.

F. Retinal dysplasia, focal folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinal atrophy-generalized

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as progressive retinal atrophy (PRA), may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. Except for X-linked PRA in the Siberian Husky, in all breeds studied to date, PRA is inherited as an autosomal recessive trait.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998

2. Barnett KC: Hereditary cataract in the dog. J Small Anim Pract 19:109, 1978.

3. Barnett KC: The diagnosis and differential diagnosis of cataracts in the dog. J Small Anim Pract 26:305, 1985.

4. Leon A et al: Hereditary persistent hyperplastic primary vitreous in the Staffordshire Bull Terrier. J Amer Anim Hosp Assoc 22:765, 1986.

5. Curtis R, Barnett KC, Leon A: Persistent hyperplastic primary vitreous in the Staffordshire bull terrier. Vet Rec 115:385, 1984.

6. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

8. Akhmedov NB, Baldwin VJ, Zangerl B, et al. Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog. Mol Vis 8:79-84, 2002.

CERF OCULAR DISORDERS REPORT

AMERICAN STAFFORDSHIRE TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF AMERICAN STAFFORDSHIRE TERRIER 125 368 EXAMINED Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 20.54% DISTICHIASIS 7 5.60% 21 5.71% CORNEA DYSTROPHY--ENDOTHELIAL 1 0.80% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.80% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.27% UVEA IRIS / CILIARY BODY CYSTS 10.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 4.00% 12 3.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.27% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 1.60% 6 1.63% ANTERIOR CORTEX INTERMEDIATE* 41.09% ANTERIOR CORTEX SUSPICIOUS 1 0.80% ANT. CORTEX PUNCT. SIGN. UNKNOWN 30.82% POSTERIOR CORTEX INTERMEDIATE* 10.27% POSTERIOR CORTEX SUSPICIOUS 1 0.80% POST. CORTEX PUNCT. SIGN. UNKNOWN 20.54% EQUATORIAL CORTEX INTERMEDIATE* 1 0.80% 1 0.27% EQUATORIAL CORTEX SUSPICIOUS 1 0.80% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 51.36% ANTERIOR SUTURES PUNCTATE* 10.27% POSTERIOR SUTURES DIFFUSE* 1 0.80% POSTERIOR SUTURES SUSPICIOUS 1 0.80% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.80% 2 0.54% NUCLEUS PUNCTATE SIGN. UNKNOWN 41.09% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.80% CAPSULAR SIGN. UNKNOWN 41.09% POSTERIOR CAPSULE SUSPICIOUS 1 0.80% SUBLUXATION/LUXATION 10.27% VITREOUS PERSISTENT HYALOID ARTERY 20.54% FUNDUS RETINAL ATROPHY--SUSPICIOUS 20.54% RETINAL DYSPLASIA FOCAL/FOLDS 82.17% RETINAL DYSPLASIA GEOGRAPHIC 20.54% OTHER OTHER, INHERITED 1 0.80% 1 0.27% OTHER, NON -INHERITED 27 7.34% NORMAL NORMAL 108 86.40% 304 82.61%

AMERICAN WATER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1 NO

B. Distichiasis Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Persistent pupillary Not defined 2 Breeder option membranes - iris to iris

E. Cataract Not defined 1 NO

Description and Comments

A. Microphthalmia

Microphthalmia is a congenital defect characterized by a small eye. The condition may be seen alone without vision impairment but it is most often associated with defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina (retinal dysplasia).

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Entropion

D. Persistent pupillary membranes (PPM)

E. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the American Water Spaniel breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

AMERICAN WATER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF AMERICAN WATER SPANIEL EXAMINED 418 395

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.48% GLAUCOMA 2 0.48% EYELIDS ENTROPION 5 1.20% ECTROPION 10.25% DISTICHIASIS 113 27.03% 134 33.92% EURY/MACRO BLEPHARON 1 0.24% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.24% 2 0.51% UVEA IRIS / CILIARY BODY CYSTS 10.25% IRIS COLOBOMA 1 0.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 0.72% 5 1.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.24% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.24% 1 0.25% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 22 5.26% 9 2.28% ANTERIOR CORTEX PUNCTATE* 2 0.48% 1 0.25% ANTERIOR CORTEX INTERMEDIATE* 4 0.96% 2 0.51% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.24% 1 0.25% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.48% POSTERIOR CORTEX PUNCTATE* 3 0.72% 1 0.25% POSTERIOR CORTEX INTERMEDIATE* 7 1.67% 4 1.01% POSTERIOR CORTEX DIFFUSE* 1 0.24% POST. CORTEX PUNCT. SIGN. UNKNOWN 20.51% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.24% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.25% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.24% POSTERIOR SUTURES PUNCTATE* 1 0.24% 2 0.51% POSTERIOR SUTURES INTERMEDIATE* 3 0.72% 2 0.51% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.24% 8 2.03% NUCLEUS PUNCTATE* 1 0.24% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.24% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.24% CAPSULAR PUNCTATE 10.25% CAPSULAR SIGN. UNKNOWN 5 1.20% 7 1.77% POSTERIOR CAPSULE 2 0.48% VITREOUS PERSISTENT HYALOID ARTERY 20.51% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.24% RETINAL ATROPHY--SUSPICIOUS 2 0.48% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.24% 5 1.27% RETINAL DYSPLASIA GEOGRAPHIC 10.25%

AMERICAN WATER SPANIEL

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 10.25% OTHER, NON -INHERITED 15 3.80% NORMAL NORMAL 271 64.83% 246 62.28%

ARGENTINE DOGO

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option membrane - iris to iris

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Argentine dogo breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

ARGENTINE DOGO

1991 - 1999 2000-2007 TOTAL NUMBER OF ARGENTINE DOGO EXAMINED 84 17

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 1.19% DYSTROPHY--ENDOTHELIAL 1 1.19% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 14.29% 2 11.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 1.19% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 3 3.57% 1 5.88% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.19% NUCLEUS INTERMEDIATE* 1 1.19% 1 5.88% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.19% GENERALIZED CATARACT* 1 1.19% VITREOUS PERSISTENT HYALOID ARTERY 1 1.19% OTHER OTHER, INHERITED 1 1.19% OTHER, NON -INHERITED 15.88% NORMAL NORMAL 71 84.52% 14 82.35%

AUSTRALIAN CATTLE DOG (Queensland Heeler or Blue Heeler)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Lens luxation Not defined 1,2 NO

B. Glaucoma Not defined 2,6 NO

C. Corneal dystrophy Not defined 9 Breeder option - epithelial/stromal

D. Persistent pupillary Not defined 5 Breeder option membranes - iris to iris

E. Cataract Not defined 1 NO

F. Retinal atrophy Autosomal 1,3,7,10 NO - generalized (prcd) recessive

G. Retinal dysplasia Not defined 8 Breeder option - folds

H. Ceroid lipofuscinosis Not defined 1,4 NO

Description and Comments

A. Lens luxation

Partial (subluxation) or complete displacement of the lens from the normal anatomic site behind the pupil. Lens luxation not associated with trauma or inflammation is presumed to be inherited. Lens luxation may result in elevated intraocular pressure (glaucoma) causing vision impairment or blindness.

Cases have been reported in Australia (J. Smith), but no references have been found. The lens luxates at middle age and is often found with concurrent glaucoma.

B. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy).

C. Corneal Dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal atrophy-generalized (prcd)

There are cases reported in the United States and Australia. Animals at the 3-5 year age range have had ophthalmoscopically typical signs of diffuse retinal degeneration which can be confirmed by electroretinography. Clinically there were only subtle signs of night blindness in the younger animals. Owners have reported obvious night and day blindness in animals at 5-6 years of age. Clinical experiences of Australian clinicians indicate the disease is a significant problem. There is no referenced proof of the mode of inheritance. However, it is presumed to be an autosomal recessive trait based on studies of similar disease in other breeds. Some ACVO diplomates have indicated that there may be more than one manifestation of the disease: an early emerging disease (2-4 years of age) and a later disease (5-6 year of age). Because of the significance of blindness, suspicious and affected animals are not to be recommended for breeding foundation. Parents of affected animals should be presumed to be carriers and siblings of affected animals should not be used as breed foundation.

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

H. Ceroid lipofuscinosis

A metabolic disorder of the retina and retinal pigment epithelium with accumulation of lipopigments resulting in retinal degeneration.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Collier L, McCalla T, Moore CP: Anterior lens luxation in Queensland Heeler ( Australian Cattle) dogs. Proc Am Coll Vet Ophthal 20:185, 1989.

3. Laratta LJ, Sims MH, Brooks DE: Progressive retinal degeneration in the Australian cattle dog. Proc Am Coll Vet Ophthal 19:9, 1988.

4. Wood, PA; Sisk, DB; Styer, E; Baker, HJ: Animal model: ceroidosis (ceroid-lipofuscinosis) in Australian cattle dogs. Am J Med Genet 26:891, 1987.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. Gelatt, KN, MaacKay EO: Prevalence of the breed- related glaucomas in pure-dogs in North America: Vet Ophthalmol 7:2, 2004; 97—111.

7. Dekomine et al: Animal Genetics: Exclusion of PDE6A For generalized progressive retinal atrophy in 11 mal et breeds March 2000;34;135-139.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

9. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

10. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

AUSTRALIAN CATTLE DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF AUSTRALIAN CATTLE DOG EXAMINED 2298 1590

Diagnosic Name Number Percent Number Percent EYELIDS ECTROPION 1 0.04% DISTICHIASIS 7 0.30% 4 0.25% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.04% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 9 0.39% 9 0.57% DYSTROPHY--ENDOTHELIAL 1 0.04% 3 0.19% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 20.13% UVEA IRIS / CILIARY BODY CYSTS 3 0.13% 6 0.38% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 16 0.70% 16 1.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.04% 1 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.22% 1 0.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 119 5.18% 88 5.53% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.35% ANTERIOR CORTEX PUNCTATE* 15 0.65% 15 0.94% ANTERIOR CORTEX INTERMEDIATE* 18 0.78% 21 1.32% ANTERIOR CORTEX DIFFUSE* 2 0.09% 2 0.13% ANT. CORTEX PUNCT. SIGN. UNKNOWN 29 1.26% 49 3.08% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 6 0.26% POSTERIOR CORTEX PUNCTATE* 20 0.87% 7 0.44% POSTERIOR CORTEX INTERMEDIATE* 30 1.31% 33 2.08% POSTERIOR CORTEX DIFFUSE* 4 0.17% 2 0.13% POST. CORTEX PUNCT. SIGN. UNKNOWN 13 0.57% 27 1.70% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 3 0.13% EQUATORIAL CORTEX PUNCTATE* 12 0.52% 7 0.44% EQUATORIAL CORTEX INTERMEDIATE* 23 1.00% 21 1.32% EQUATORIAL CORTEX DIFFUSE* 1 0.04% 1 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 12 0.52% 5 0.31% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.22% ANTERIOR SUTURES PUNCTATE* 2 0.09% 1 0.06% ANTERIOR SUTURES INTERMEDIATE* 2 0.09% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.17% 10 0.63% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.22% POSTERIOR SUTURES PUNCTATE* 4 0.17% 5 0.31% POSTERIOR SUTURES INTERMEDIATE* 5 0.22% 13 0.82% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20 0.87% 22 1.38% NUCLEUS (SIZE UNSPECIFIED)* 2 0.09% NUCLEUS PUNCTATE* 1 0.04% 1 0.06% NUCLEUS INTERMEDIATE* 1 0.04% 1 0.06% NUCLEUS DIFFUSE* 10.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 6 0.26% 8 0.50% ANTERIOR CAPSULE 2 0.09%

AUSTRALIAN CATTLE DOG

1991 - 1999 2000-2007 ANTERIOR CAPSULE SUSPICIOUS 1 0.04% CAPSULAR PUNCTATE 1 0.04% 2 0.13% CAPSULAR INTERMEDIATE 20.13% CAPSULAR SIGN. UNKNOWN 4 0.17% 18 1.13% POSTERIOR CAPSULE 2 0.09% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.04% POSTERIOR CAPSULE SUSPICIOUS 1 0.04% GENERALIZED CATARACT* 4 0.17% 4 0.25% SUBLUXATION/LUXATION 2 0.09% 1 0.06% VITREOUS PERSISTENT HYALOID ARTERY 5 0.22% 3 0.19% PHPV/PTVL 10.06% DEGENERATION (NO FURTHER SPECIFICATION) 5 0.22% 4 0.25% DEGENERATION ANTERIOR CHAMBER 10.06% DEGENERATION SYNERESIS 10.06% FUNDUS RETINAL ATROPHY--GENERALIZED 49 2.13% 45 2.83% RETINAL ATROPHY--SUSPICIOUS 73 3.18% 57 3.58% RETINAL DYSPLASIA FOCAL/FOLDS 15 0.65% 16 1.01% RETINAL DYSPLASIA GEOGRAPHIC 4 0.17% 6 0.38% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.06% STAPHYLOMA / COLOBOMA 1 0.04% RETINAL DETACHMENT 20.13% RETINAL HEMORRHAGE 1 0.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.09% OTHER OTHER, INHERITED 13 0.57% 4 0.25% OTHER, NON -INHERITED 14 0.61% 102 6.42% NORMAL NORMAL 1925 83.77% 1258 79.12%

AUSTRALIAN KELPE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 2 NO

B. Retinal atrophy Not defined 1 NO -generalized

Description and Comments

A. Cataract

B. Retinal atrophy-generalized

The age of onset has been reported to be between 2 and 3 years of age with initial loss of night vision progressing to complete blindness.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Australian Kelpe breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003- 2004.

AUSTRALIAN KELPIE

1991 - 1999 2000-2007 TOTAL NUMBER OF AUSTRALIAN KELPIE EXAMINED 77 93

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 1.30% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11.08% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 16.88% 12 12.90% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 2.60% ANTERIOR CORTEX PUNCTATE* 2 2.60% 2 2.15% ANTERIOR CORTEX INTERMEDIATE* 1 1.30% 7 7.53% ANTERIOR CORTEX DIFFUSE* 1 1.30% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 6.49% 5 5.38% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.30% POSTERIOR CORTEX PUNCTATE* 77.53% POSTERIOR CORTEX INTERMEDIATE* 5 6.49% 2 2.15% POSTERIOR CORTEX SUSPICIOUS 1 1.30% POST. CORTEX PUNCT. SIGN. UNKNOWN 22.15% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.30% EQUATORIAL CORTEX INTERMEDIATE* 22.15% POSTERIOR SUTURES INTERMEDIATE* 1 1.30% NUCLEUS PUNCTATE* 1 1.30% ANTERIOR CAPSULE 1 1.30% ANTERIOR CAPSULE SIGN. UNKNOWN 2 2.60% CAPSULAR SIGN. UNKNOWN 33.23% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 1.30% DEGENERATION ANTERIOR CHAMBER 11.08% FUNDUS RETINAL ATROPHY--GENERALIZED 5 6.49% RETINAL ATROPHY--SUSPICIOUS 3 3.90% 3 3.23% RETINAL DYSPLASIA FOCAL/FOLDS 4 5.19% CHOROIDAL HYPOPLASIA 1 1.30% OTHER OTHER, INHERITED 11.08% OTHER, NON -INHERITED 66.45% NORMAL NORMAL 52 67.53% 71 76.34%

AUSTRALIAN SHEPHERD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Presumed 1,6 NO multiple ocular autosomal defects recessive with incomplete penetrance

B. Distichiasis Not defined 1,14 Breeder option

C. Corneal dystrophy Not defined 8 Breeder option - epithelial/stromal

D. Iris coloboma Not defined 1 NO

E. Persistent pupillary membranes - iris to iris Not defined 1 Breeder option - all other forms Not defined 1,8 NO

F. Cataract Suspect 1,11 NO autosomal dominant

G. Persistent hyaloid Not defined 8 Breeder option artery

H. Retinal dysplasia Not defined 8 Breeder option - folds

I. Retinal atrophy Not defined 1 NO - generalized

J. Choroidal Simple 1,7,9,12,13,14 NO hypoplasia, recessive +/- coloboma, Not defined +/- retinal detachment Not defined

K. Coloboma/ Not defined 1 NO staphyloma without microphthalmia

L. Micropapilla Not defined 10 Breeder option

It is recommended that this breed be examined prior to pharmacological dilation to best facilitate identification of iris coloboma in this breed.

Description and Comments

A. Microphthalmia with multiple ocular defects

Microphthalmia is a congenital defect characterized by a small eye with associated defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina (dysplasia). In the Australian Shepherd, microphthalmia has long been suspected to be associated with merled coat coloration but a definitive genetic relationship has not been established. The eyes of affected homozygous merle (usually white) dogs have extreme forms of this entity and are usually blind at birth. Affected heterozygous merle-coated dogs demonstrate less severe manifestations.

B. Distichiasis

C. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Iris coloboma

An abnormality in the development of the iris which may present as a minor notching of the pupillary margin, a hole in the iris or complete absence of iridal development. The relationship of iris coloboma to other ocular abnormalities in this breed has not been determined.

E. Persistent pupillary membranes (PPM)

F. Cataract

The Animal Health Trust (UK) identified autosomal recessive gene mutation causing hereditary cataract in this breed. Genetic test is available. website: www.aht.org.uk.

G. Persistent hyaloid artery (PHA)

Congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant).

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

I. Retinal atrophy- generalized (PRA)

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality may be detected by electroretinogram before it is apparent clinically. In mostl breeds studied to date, PRA is recessively inherited. The disease in the Australian shepherd has not been characterized sufficiently to establish the disease frequency, the disease mechanism, or the age when early diagnosis by ophthalmoscopy and/or electroretinography is possible.

J. Choroidal hypoplasia (with or without coloboma and retinal detachment)

A congenital defect in which the choroid develops incompletely. The clinical appearance is similar to the same condition reported in Collies and Shetland Sheepdogs.

This disorder is collectively referred to as "Collie Eye Anomaly". Although there is a lack of scientific evidence, it is believed that the incidence and severity of this entity in collies was decreased by breeding only "mildly affected" animals. At this time, the Genetics Committee of the ACVO recommends against breeding dogs with any form of the Collie Eye anomaly.

For DNA testing contact Optigen®: CEA/CH test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

K. Coloboma/staphyloma (unassociated with microphthalmia)

A coloboma is a congenital defect which may affect the iris, choroid or optic disc. Iris colobomas are seen as notches in the pupillary margin. Scleral ectasia is defined as a congenital thinning and secondary distention of the sclera; when lined by uveal tissue it is called a staphyloma. These may be anteriorly located, apparent as a bulge beneath the upper eyelid or posteriorly located, requiring visualization with an ophthalmoscope. These conditions may or may not be genetically related to the same anomalies seen associated with microphthalmia (entity "A" above).

L. Micropapilla

Micropapilla refers to a small optic disc which is not associated with vision impairment. Optic nerve hypoplasia refers to a congenital defect of the optic nerve which causes blindness and abnormal pupil response in the affected eye. It may be difficult to differentiate between micropapilla and optic nerve hypoplasia on a routine (dilated) screening ophthalmoscopic exam.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Gelatt KN, McGill LD: Clinical characteristics of microphthalmia with colobomas of the Australian shepherd dog. J Am Vet Med Assoc 162:393, 1971.

3. Gelatt KN, Veith LA: Hereditary multiple ocular anomalies in Australian shepherd dogs. Vet Med Small Anim Clin 65:39, 1970.

4. Cook CS, Burling K, Nelson EJ: Embryogenesis of posterior segment colobomas in the Australian shepherd dog. Prog in Vet Comp Ophthalmol 1: 163, 1991.

5. Bertram T, Coiqnoul F, Cheville N: Ocular dysgenesis in Australian shepherd dogs. J Am Anim Hosp Assoc 20:177, 1984.

6. Gelatt KN, Powell NG, Huston K: Inheritance of microphthalmia with coloboma. Am J Vet Res 42:1686, 1981.

7. Rubin LF, Nelson EJ, Sharp CA: Collie eye anomaly in Australian shepherd dogs. Prog in Vet Comp Ophthalmol 1: 105, 1991.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

9. Lowe, JK, Kukekova, AV, Kirkness, EF, Langlois, MC, Aguirre, GD, Ackland, GM, Ostrander, EA: Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86- 95, 2003.

10. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

11. Mellersh CS, Pettitt L, Forman OP, et al: Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-378, 2006.

12. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

13. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

14. Munyard KA, Sherry CR, Sherry L: A retrospective evaluation of congenital ocular defects in Australian Shepherd dogs in Australia. Vet Ophthalmol 10:19-22, 2007.

AUSTRALIAN SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF AUSTRALIAN SHEPHERD EXAMINED 26846 35570

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 42 0.16% 31 0.09% GLAUCOMA 6 0.02% 2 0.01% EYELIDS ENTROPION 2 0.01% 5 0.01% ECTROPION 2 0.01% 3 0.01% DISTICHIASIS 410 1.53% 549 1.54% ECTOPIC CILIA 1 0.00% 3 0.01% EURY/MACRO BLEPHARON 30.01% THIRD EYELID CARTILAGE ANOMALY/EVERSION 2 0.01% 1 0.00% GLAND PROLAPSE 10.00% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 123 0.46% 121 0.34% DYSTROPHY--ENDOTHELIAL 6 0.02% 2 0.01% DERMOID 1 0.00% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 5 0.02% 1 0.00% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.00% UVEA IRIS / CILIARY BODY CYSTS 9 0.03% 9 0.03% IRIS COLOBOMA 402 1.50% 554 1.56% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 18 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 679 2.53% 1630 4.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 27 0.10% 30 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 17 0.06% 19 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 50 0.19% 42 0.12% ENDOTHELIAL PIGMENT/NO PPM 10.00% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 683 2.54% 861 2.42% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 33 0.12% ANTERIOR CORTEX PUNCTATE* 58 0.22% 76 0.21% ANTERIOR CORTEX INTERMEDIATE* 92 0.34% 120 0.34% ANTERIOR CORTEX DIFFUSE* 19 0.07% 13 0.04% ANTERIOR CORTEX SUSPICIOUS 8 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 134 0.50% 250 0.70% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.00% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 45 0.17% POSTERIOR CORTEX PUNCTATE* 97 0.36% 122 0.34% POSTERIOR CORTEX INTERMEDIATE* 211 0.79% 315 0.89% POSTERIOR CORTEX DIFFUSE* 31 0.12% 24 0.07% POSTERIOR CORTEX SUSPICIOUS 14 0.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 86 0.32% 109 0.31% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 20.01% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 13 0.05%

AUSTRALIAN SHEPHERD

1991 - 1999 2000-2007 EQUATORIAL CORTEX PUNCTATE* 28 0.10% 36 0.10% EQUATORIAL CORTEX INTERMEDIATE* 60 0.22% 74 0.21% EQUATORIAL CORTEX DIFFUSE* 2 0.01% 4 0.01% EQUATORIAL CORTEX SUSPICIOUS 6 0.02% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 43 0.16% 72 0.20% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.00% ANTERIOR SUTURES PUNCTATE* 2 0.01% 15 0.04% ANTERIOR SUTURES INTERMEDIATE* 3 0.01% 16 0.04% ANTERIOR SUTURES DIFFUSE* 1 0.00% 2 0.01% ANTERIOR SUTURES SUSPICIOUS 2 0.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 12 0.04% 30 0.08% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 13 0.05% POSTERIOR SUTURES PUNCTATE* 46 0.17% 79 0.22% POSTERIOR SUTURES INTERMEDIATE* 54 0.20% 64 0.18% POSTERIOR SUTURES DIFFUSE* 2 0.01% 2 0.01% POSTERIOR SUTURES SUSPICIOUS 9 0.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 87 0.32% 221 0.62% NUCLEUS (SIZE UNSPECIFIED)* 15 0.06% NUCLEUS PUNCTATE* 24 0.09% 55 0.15% NUCLEUS INTERMEDIATE* 49 0.18% 109 0.31% NUCLEUS DIFFUSE* 9 0.03% 21 0.06% NUCLEUS SUSPICIOUS 11 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 86 0.32% 171 0.48% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.00% NUCLEUS DIFFUSE SIGN. UNKNOWN 10.00% ANTERIOR CAPSULE 3 0.01% ANTERIOR CAPSULE SIGN. UNKNOWN 13 0.05% ANTERIOR CAPSULE SUSPICIOUS 3 0.01% CAPSULAR PUNCTATE 5 0.02% 50 0.14% CAPSULAR INTERMEDIATE 7 0.03% 64 0.18% CAPSULAR DIFFUSE 1 0.00% 4 0.01% CAPSULAR SIGN. UNKNOWN 13 0.05% 163 0.46% POSTERIOR CAPSULE 36 0.13% POSTERIOR CAPSULE SIGN. UNKNOWN 20 0.07% POSTERIOR CAPSULE SUSPICIOUS 7 0.03% GENERALIZED CATARACT* 28 0.10% 22 0.06% GENERALIZED SUSPICIOUS 1 0.00% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.00% SUBLUXATION/LUXATION 2 0.01% 9 0.03% VITREOUS PERSISTENT HYALOID ARTERY 213 0.79% 194 0.55% PHPV/PTVL 24 0.09% 31 0.09% DEGENERATION (NO FURTHER SPECIFICATION) 50 0.19% 52 0.15% DEGENERATION ANTERIOR CHAMBER 17 0.05% DEGENERATION SYNERESIS 20 0.06% FUNDUS RETINAL ATROPHY--GENERALIZED 23 0.09% 32 0.09% RETINAL ATROPHY--SUSPICIOUS 24 0.09% 20 0.06% RETINAL DYSPLASIA FOCAL/FOLDS 191 0.71% 293 0.82%

AUSTRALIAN SHEPHERD

1991 - 1999 2000-2007 RETINAL DYSPLASIA GEOGRAPHIC 18 0.07% 15 0.04% RETINAL DYSPLASIA GENERALIZED/DETACHED 3 0.01% 1 0.00% CHOROIDAL HYPOPLASIA 46 0.17% 42 0.12% STAPHYLOMA / COLOBOMA 44 0.16% 40 0.11% RETINAL DETACHMENT 31 0.12% 23 0.06% RETINAL HEMORRHAGE 10 0.04% 3 0.01% OPTIC NERVE COLOBOMA 64 0.24% 49 0.14% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 71 0.26% OPTIC NERVE HYPOPLASIA 29 0.08% MICROPAPILLA 8 0.03% 76 0.21% OTHER OTHER, INHERITED 153 0.57% 89 0.25% OTHER, NON -INHERITED 70 0.26% 1044 2.94% NORMAL NORMAL 23562 87.77% 31516 88.60%

AUSTRALIAN STUMPY TAIL CATTLE DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Autosomal 1 NO -generalized (prcd) recessive

Description and Comments

A. Retinal atrophy-generalized (prcd)

References

1. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

AUSTRALIAN STUMPY TAIL CATTLE DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF AUSTRALIAN STUMPY TAIL CATTLE DOG 39 EXAMINED Diagnosic Name Number Percent Number Percent LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 410.26% ANTERIOR CORTEX PUNCTATE* 12.56% ANTERIOR CORTEX INTERMEDIATE* 12.56% POSTERIOR CORTEX INTERMEDIATE* 25.13% POST. CORTEX PUNCT. SIGN. UNKNOWN 12.56% EQUATORIAL CORTEX INTERMEDIATE* 25.13% NUCLEUS INTERMEDIATE* 12.56% NUCLEUS PUNCTATE SIGN. UNKNOWN 12.56% FUNDUS RETINAL ATROPHY--GENERALIZED 37.69% RETINAL DYSPLASIA FOCAL/FOLDS 12.56% RETINAL DYSPLASIA GEOGRAPHIC 12.56% OTHER OTHER, INHERITED 12.56% OTHER, NON -INHERITED 12.56% NORMAL NORMAL 34 87.18%

AUSTRALIAN TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 2 Breeder option membrane - iris to iris

B. Cataract Not defined 1 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Australian terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

2. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

AUSTRALIAN TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF AUSTRALIAN TERRIER EXAMINED 360 180

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 10.56% EYELIDS ENTROPION 2 0.56% DISTICHIASIS 21.11% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 0.83% 1 0.56% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 1.94% 5 2.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.83% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 7 1.94% 4 2.22% ANTERIOR CORTEX PUNCTATE* 1 0.28% ANTERIOR CORTEX INTERMEDIATE* 1 0.28% 2 1.11% ANTERIOR CORTEX DIFFUSE* 1 0.28% 1 0.56% ANTERIOR CORTEX SUSPICIOUS 1 0.28% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 1.11% 2 1.11% POSTERIOR CORTEX PUNCTATE* 1 0.28% POSTERIOR CORTEX INTERMEDIATE* 2 0.56% 2 1.11% POSTERIOR CORTEX DIFFUSE* 10.56% POST. CORTEX PUNCT. SIGN. UNKNOWN 3 0.83% EQUATORIAL CORTEX INTERMEDIATE* 2 0.56% 1 0.56% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 21.11% ANTERIOR SUTURES INTERMEDIATE* 10.56% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.28% 1 0.56% POSTERIOR SUTURES SUSPICIOUS 1 0.28% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.56% ANTERIOR CAPSULE SUSPICIOUS 1 0.28% CAPSULAR SIGN. UNKNOWN 21.11% POSTERIOR CAPSULE SUSPICIOUS 1 0.28% GENERALIZED CATARACT* 2 0.56% SUBLUXATION/LUXATION 1 0.28% VITREOUS DEGENERATION SYNERESIS 21.11% FUNDUS RETINAL ATROPHY--SUSPICIOUS 2 0.56% 1 0.56% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.56% RETINAL HEMORRHAGE 1 0.28% OTHER OTHER, INHERITED 1 0.28% OTHER, NON -INHERITED 1 0.28% 6 3.33% NORMAL NORMAL 325 90.28% 162 90.00%

BASENJI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

B. Corneal dystrophy Not defined 1 NO - endothelial

C. Persistent pupillary membranes - iris to iris Not defined 1-6,8 Breeder option - iris to cornea Not defined 8 NO - iris to lens Not defined 8 NO - iris sheets Not defined 8 NO - endothelial opacity / No strands Not defined 9 NO

D. Cataract Not defined 1 NO

E. Retinal atrophy Not defined 1,7 NO - generalized

F. Optic nerve Not defined 1,2 NO coloboma

It is recommended that this breed be examined prior to pharmacological dilation to best facilitate identification of persistent pupillary membrane in this breed.

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

B. Corneal dystrophy- endothelial

Corneal endothelial dystrophy is an abnormal loss of the inner lining of the cornea that causes progressive fluid retention (edema). With time the edema results in keratitis and decreased vision. This usually does not occur until the animal is older. In the Basenji, this condition is less common than corneal endothelial disease caused by attachment of persistent pupillary membranes.

C. Persistent pupillary membranes (PPM)

In the Basenji, this is a particularly significant problem with many cases reported where the strands bridge between the iris and the cornea resulting in localized corneal opacities which may cause vision impairment. This has also been associated with optic nerve coloboma (see “E” below).

D. Cataract

E. Retinal atrophy-generalized

F. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

In the Basenji, this condition has been associated with persistent pupillary membrane (see “C” above).

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Barnett KC, Knight GC: Persistent pupillary membrane and associated defects in the Basenji. Vet Rec 85:242, 1969.

3. Mason TA: Persistent pupillary membranes in the Basenji. Austral Vet J 52:343, 1976.

4. Roberts SR, Bistner SI: Persistent pupillary membrane in Basenji dogs. J Am Vet Med Assoc 153:571, 1968.

5. Barnett KC, Knight GC: Persistent pupillary membrane in the Basenji. Vet Rec 85:242, 1969.

6. Bistner S, Rubin LF, Roberts SR: A review of persistent pupillary membranes in the Basenji dog. J Am Anim Hosp Assoc 7:143, 1971.

7. Priester WA: Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res 35:571, 1974.

8. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

9. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BASENJI

1991 - 1999 2000-2007 TOTAL NUMBER OF BASENJI EXAMINED 4293 3695

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 7 0.16% 1 0.03% EYELIDS ENTROPION 30.08% ECTROPION 10.03% DISTICHIASIS 28 0.65% 21 0.57% EURY/MACRO BLEPHARON 1 0.02% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 137 3.19% 91 2.46% DYSTROPHY--ENDOTHELIAL 118 2.75% 90 2.44% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.03% UVEA IRIS / CILIARY BODY CYSTS 1 0.02% IRIS COLOBOMA 6 0.14% 3 0.08% PIGMENTARY UVEITIS 10.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2112 49.20% 1780 48.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 221 5.15% 143 3.87% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 591 13.77% 337 9.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20 0.47% 18 0.49% ENDOTHELIAL PIGMENT/NO PPM 60.16% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 118 2.75% 84 2.27% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 6 0.14% ANTERIOR CORTEX PUNCTATE* 19 0.44% 13 0.35% ANTERIOR CORTEX INTERMEDIATE* 10 0.23% 13 0.35% ANTERIOR CORTEX DIFFUSE* 1 0.02% 1 0.03% ANTERIOR CORTEX SUSPICIOUS 1 0.02% ANT. CORTEX PUNCT. SIGN. UNKNOWN 26 0.61% 20 0.54% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.09% POSTERIOR CORTEX PUNCTATE* 7 0.16% 3 0.08% POSTERIOR CORTEX INTERMEDIATE* 12 0.28% 9 0.24% POSTERIOR CORTEX DIFFUSE* 1 0.02% 1 0.03% POSTERIOR CORTEX SUSPICIOUS 1 0.02% POST. CORTEX PUNCT. SIGN. UNKNOWN 5 0.12% 7 0.19% EQUATORIAL CORTEX PUNCTATE* 4 0.09% 4 0.11% EQUATORIAL CORTEX INTERMEDIATE* 11 0.26% 5 0.14% EQUATORIAL CORTEX DIFFUSE* 3 0.07% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.12% 4 0.11% ANTERIOR SUTURES PUNCTATE* 1 0.02% 2 0.05% ANTERIOR SUTURES INTERMEDIATE* 2 0.05% 1 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.02% 5 0.14% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 13 0.30% POSTERIOR SUTURES PUNCTATE* 22 0.51% 22 0.60% POSTERIOR SUTURES INTERMEDIATE* 14 0.33% 8 0.22% POSTERIOR SUTURES SUSPICIOUS 3 0.07%

BASENJI

1991 - 1999 2000-2007 POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 61 1.42% 84 2.27% NUCLEUS (SIZE UNSPECIFIED)* 5 0.12% NUCLEUS PUNCTATE* 4 0.09% 7 0.19% NUCLEUS INTERMEDIATE* 4 0.09% 8 0.22% NUCLEUS DIFFUSE* 2 0.05% NUCLEUS SUSPICIOUS 2 0.05% NUCLEUS PUNCTATE SIGN. UNKNOWN 24 0.56% 30 0.81% ANTERIOR CAPSULE 11 0.26% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.07% ANTERIOR CAPSULE SUSPICIOUS 3 0.07% CAPSULAR PUNCTATE 10 0.23% 36 0.97% CAPSULAR INTERMEDIATE 18 0.49% CAPSULAR SIGN. UNKNOWN 11 0.26% 59 1.60% POSTERIOR CAPSULE 3 0.07% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.05% POSTERIOR CAPSULE SUSPICIOUS 2 0.05% GENERALIZED CATARACT* 6 0.14% 1 0.03% SUBLUXATION/LUXATION 3 0.07% 4 0.11% VITREOUS PERSISTENT HYALOID ARTERY 5 0.12% 3 0.08% PHPV/PTVL 70.19% DEGENERATION (NO FURTHER SPECIFICATION) 8 0.19% 9 0.24% DEGENERATION ANTERIOR CHAMBER 30.08% DEGENERATION SYNERESIS 30.08% FUNDUS RETINAL ATROPHY--GENERALIZED 67 1.56% 38 1.03% RETINAL ATROPHY--CENTRAL 1 0.02% RETINAL ATROPHY--SUSPICIOUS 169 3.94% 62 1.68% RETINAL DYSPLASIA FOCAL/FOLDS 7 0.16% 6 0.16% RETINAL DYSPLASIA GEOGRAPHIC 4 0.09% 9 0.24% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.02% 2 0.05% CHOROIDAL HYPOPLASIA 1 0.02% STAPHYLOMA / COLOBOMA 8 0.19% 4 0.11% RETINAL DETACHMENT 2 0.05% 4 0.11% RETINAL HEMORRHAGE 1 0.02% 4 0.11% OPTIC NERVE COLOBOMA 63 1.47% 28 0.76% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.05% MICROPAPILLA 1 0.02% OTHER OTHER, INHERITED 135 3.14% 83 2.25% OTHER, NON -INHERITED 29 0.68% 162 4.38% NORMAL NORMAL 1501 34.96% 1652 44.71%

BASSET HOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1,3-7, 10 NO

B. Entropion Not defined 1 Breeder option

C. Ectropion Not defined 1,2,12 Breeder option

D. Distichiasis Not defined 9 Breeder option

E. Macroblepharon Not defined 1,2,12 Breeder option

F. Persistent pupillary membrane - iris to iris Not defined 1,11 Breeder option - iris to lens Not defined 13,14 NO - iris to cornea Not defined 11 NO

G. Cataract Not defined 1 NO

H. Persistent hyaloid Not defined 12 Breeder option artery

I. Retinal dysplasia Not defined 12 Breeder option - folds

Description and Comments

A. Glaucoma

Glaucoma is characterized by an elevation of intraocular pressure which, when sustained even for a brief period of time, causes intraocular damage resulting in blindness. The elevated intraocular pressure occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

Some Basset Hounds have an abnormality of the iridocorneal angle termed goniodysgenesis. This abnormality is not visible during routine ophthalmologic examination using an indirect ophthalmoscope or a slitlamp microscope. There appears to be an association between goniodysgenesis and glaucoma, but the mechanism by which the angle defect results in glaucoma has not been determined. It is suspected that mild to severe

anterior uveitis impairs outflow of aqueous through the small perforations that are present in the sheet of tissue in the iridocorneal angle; this results in a secondary and often irreversible rise in intraocular pressure that causes blindness. The inheritance of goniodysgenesis in the Basset Hound is not known. Until the inheritance is determined, control should be directed to removing dogs from breeding that have glaucoma and have goniodysgenesis, as well as those dogs that produce progeny affected with glaucoma

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Ectropion

A conformational defect resulting in eversion of the eyelids, which may cause ocular irritation. It is likely that ectropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

In the Basset Hound, ectropion is associated with an exceptionally large palpebral fissure (macroblepharon) and laxity of the canthal structures. Central lower lid ectropion is often associated with entropion of the adjacent lid segment. This causes severe ocular irritation.

It is acknowledged that factors other than genetics may play a role or be the cause of entropion and/or ectropion. However, when non-genetic factors can be ruled out, selection should be directed to a more normal head conformation that minimizes or eliminates the likelihood of the defects.

D. Distichiasis

E. Macroblepharon

Defined as an exceptionally large palpebral fissure, macroblepharon in conjunction with laxity of the lateral canthal structures may lead to lower lid ectropion and upper lid entropion. Either of these conditions may lead to severe ocular irritation.

F. Persistent pupillary membrane

G. Cataract

H. Persistent hyaloid artery (PHA)

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Priester WA: Congenital ocular defects in cattle, horses, cats and dogs. J Am Vet Med Assoc 160:1504, 1972.

3. Martin CL and Wyman M: Glaucoma in the Basset Hound. J Am Vet Med Assoc 155:1320, 1968.

4. Wyman M and Ketring K: Congenital glaucoma in the Basset hound: a biologic model. Trans Am Acad Ophth and Otol 81: OP-645, 1976.

5. Slater, MR; Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Amer Vet Med Assoc. 188:1028, 1986.

6. Bedford PGC: The aetiology of primary glaucoma in the dog. J Small Anim Pract 16:217, 1975.

7. Bedford PGC: A gonioscopic study of the iridocorneal angle in the English and American breeds of Cocker spaniel and the Basset Hound. J Small Anim Pract 18:631, 1977.

8. Smith RIE, Peiffer RL, et al: Some aspects of the pathology of canine glaucoma. Prog Vet Comp Ophthal 3:16, 1993.

9. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

10. Whiteman, A. L., et al: Progressive Retinal Degeneration in Spontaneous Canine Primary Glaucoma During The Seven Days Following the Onset of Clinical Disease in Cocker Spaniels and Bassett Hounds. ACVO Proceedings 1999.

11. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

12. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

13. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

14. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BASSET HOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF BASSET HOUND EXAMINED 561 792

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.13% DRY EYE 2 0.36% 1 0.13% EYELIDS ENTROPION 2 0.36% 9 1.14% ECTROPION 28 4.99% 78 9.85% DISTICHIASIS 6 1.07% 10 1.26% ECTOPIC CILIA 10.13% EURY/MACRO BLEPHARON 2 0.36% 10 1.26% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.53% 5 0.63% GLAND PROLAPSE 5 0.89% 3 0.38% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.18% 2 0.25% DYSTROPHY--ENDOTHELIAL 3 0.53% 1 0.13% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.53% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.36% UVEA IRIS / CILIARY BODY CYSTS 1 0.18% 3 0.38% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 2.14% 28 3.54% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.36% 8 1.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10 1.78% 14 1.77% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.18% ENDOTHELIAL PIGMENT/NO PPM 10.13% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 20 3.57% 21 2.65% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.18% ANTERIOR CORTEX PUNCTATE* 3 0.53% 8 1.01% ANTERIOR CORTEX INTERMEDIATE* 2 0.36% 3 0.38% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.53% 6 0.76% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.18% POSTERIOR CORTEX PUNCTATE* 1 0.18% 5 0.63% POSTERIOR CORTEX INTERMEDIATE* 6 1.07% 5 0.63% POSTERIOR CORTEX DIFFUSE* 30.38% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.13% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.18% EQUATORIAL CORTEX INTERMEDIATE* 20.25% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.18% 1 0.13% ANTERIOR SUTURES PUNCTATE* 30.38% ANTERIOR SUTURES INTERMEDIATE* 10.13% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.13% POSTERIOR SUTURES PUNCTATE* 40.51% POSTERIOR SUTURES INTERMEDIATE* 2 0.36% 1 0.13% NUCLEUS PUNCTATE* 1 0.18% 1 0.13% NUCLEUS INTERMEDIATE* 2 0.36% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 0.71% 1 0.13%

BASSET HOUND

1991 - 1999 2000-2007 ANTERIOR CAPSULE 1 0.18% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.18% ANTERIOR CAPSULE SUSPICIOUS 2 0.36% CAPSULAR PUNCTATE 30.38% CAPSULAR INTERMEDIATE 30.38% CAPSULAR DIFFUSE 10.13% CAPSULAR SIGN. UNKNOWN 16 2.02% GENERALIZED CATARACT* 10.13% SUBLUXATION/LUXATION 1 0.18% 1 0.13% VITREOUS PERSISTENT HYALOID ARTERY 1 0.18% 6 0.76% PHPV/PTVL 10.13% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.36% FUNDUS RETINAL ATROPHY--GENERALIZED 10.13% RETINAL ATROPHY--SUSPICIOUS 10.13% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.53% 6 0.76% RETINAL DETACHMENT 1 0.18% RETINAL HEMORRHAGE 1 0.18% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.18% OTHER OTHER, INHERITED 46 8.20% 36 4.55% OTHER, NON -INHERITED 33 4.17% NORMAL NORMAL 432 77.01% 611 77.15%

BEAGLE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with See below 1-3 NO multiple ocular defects

B. Glaucoma Presumed 1,12-24 NO autosomal recessive

C. Distichiasis Not defined 1 Breeder option

D. Prolapse of Not defined 1 Breeder option gland of third eyelid

E. Corneal dystrophy- Not defined 4-11 Breeder option epithelial/stromal

F. Persistent pupillary Not defined 31 Breeder option membrane -iris to iris

G. Cataract Not defined 1,2,25,26 NO

H. Tapetal Presumed 27-30 Breeder option degeneration autosomal recessive

I. Retinal atrophy Not defined 1 NO -generalized

J. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Microphthalmia with multiple congenital ocular defects

A developmental anomaly in which the eyeball is abnormally small. This is often associated with other ocular malformations, including defects of the cornea, anterior chamber, lens, and/or retina.

In the Beagle, the condition may be present unilaterally or bilaterally and is characterized by a small globe and associated ocular defects which are variable. Several forms of the condition, all apparently different, are recognized:

1) In one study, complete lens opacities were noted by 5-6 months of age; the severity of the cataract correlated closely with the extent of microphthalmia. Severely microphthalmic eyes also had multiple retinal folds. The disorder appeared to be inherited; the exact mode was not fully defined, although an X-linked disorder could not be ruled out.

2) A different form of microphthalmia is recognized in association with microphakia and persistent pupillary membrane (PPM). Based on a limited pedigree of one cross, a dominant inheritance was proposed; heterozygotes have PPM and microphakia / cataract and homozygous affected show microphthalmia and multiple congenital ocular anomalies.

3) A third form of microphthalmia is recognized in the breed. This condition is usually unilateral and the fellow eye is normal. The mode of inheritance has not been defined, but autosomal recessive inheritance is suspected.

B. Glaucoma

Glaucoma is an elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

Primary open angle glaucoma is present in the breed, and extensive breeding studies have demonstrated its inheritance as autosomal recessive. By one year of age, the intraocular pressure (IOP) is elevated, but the filtration angle is open (early glaucoma). Animals with moderate glaucoma show sustained elevations of IOP, focal disinsertions of the lens zonules and focal closures of the iridocorneal angle. Later the globe enlarges, the lens luxates and the eyes become blind and show the effects of chronic glaucoma.

C. Distichiasis

breeding discretion is advised.

D. Prolapse of the gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated. Commonly referred to as "cherry eye". In the Beagle, there is an association between this condition and keratoconjunctivitis sicca (KCS).

E. Corneal dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

In the Beagle, corneal dystrophy has been described as an oval opacity located at the junction at the middle and inferior thirds of the cornea. The opacities are caused by accumulation of cholesterol and other lipids within the cornea. Progression was noted with possible vision impairment.

F. Persistent pupillary membrane (PPM)

G. Cataract

Several different types of cataract (anterior capsular, posterior cortical, other) have been reported in the Beagle, but the mode of inheritance of the defects, is unknown. When one considers that this breed, particularly the laboratory-bred Beagle, has been the subject of extensive ophthalmological examination, the relatively low incidence of cataracts is surprising.

H. Tapetal degeneration

The tapetum lucidum is a modified choroidal structure present in the eyes of many animals that have good night vision. In Beagles there is a recessively inherited defect of the tapetal layer. Absence of this layer is determined by ophthalmoscopy which shows that the fundus has a uniform reddish coloration. The degeneration of the tapetum occurs as a result of abnormal postnatal development of this structure. The degeneration of the tapetum does not affect vision and does not result in functional or structural damage to the retina. As such, the condition probably represents an insignificant inherited variation of no functional significance.

I. Retinal atrophy- generalized (PRA)

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality may be detected by electroretinogram before it is apparent clinically. In all breeds studied to date, PRA is recessively inherited. The disease in the Beagle has not been characterized sufficiently to establish the disease frequency, the disease mechanism, or the age when early diagnosis by ophthalmoscopy and/or electroretinography is possible.

J. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Rubin LF: Hereditary microphakia and microphthalmia syndrome in the beagle. Trans Am Coll Vet Ophthalmol 2:50, 1971.

3. Andersen AC, Shultz FT: Inherited (congenital) cataract in the dog. Am J Path 34: 965, 1958.

4. American Kennel Club Genetic Disease Registry. Univ of Penn, 1989.

5. Waring GD, et al: Oval corneal opacities in Beagles. J Am Anim Hosp Assoc 13:204, 1977.

6. Ekins MB, et al: Oval lipid corneal opacities in Beagles, Part II. History over four years and study of tear function. J Am Anim Hosp Assoc 16:601, 1980.

7. Roth AM, et al: Oval corneal opacities in Beagles, III. Histochemical demonstration of stromal lipids without hyperlipidemia. Invest Ophthal Vis Sci 21:95, 1981.

8. Ekins MB, Sgoutas DS, Waring GO, et al: Oval lipid corneal opacities in Beagles, IV. Quantitation of excess stromal cholesterol and phospholipid. Exp Eye Res 36: 279, 1983.

9. Morrin, et al: Oval lipid corneal opacities in Beagles. Ultrastructure of normal Beagle cornea. Am J Vet Res 43:443, 1982.

10. Spangler WL, et al: Oval corneal opacities in Beagles, V. Ultrastructure. Vet Pathol 19:150, 1982.

11. Waring GO, et al: Oval lipid corneal opacities in beagles and crystalline lipid corneal opacities in Siberian Huskies. Metab Pediatr Ophthalmol 3: 203, 1979.

12 Gelatt KN: Familial glaucoma in the Beagle dog. J Am Anim Hosp Assoc 8:23, 1972.

13. Gelatt KN, Peiffer RL, Gwin RM, Sante JJ: Glaucoma in the beagle. Trans Am Acad Ophthal Otolaryngol 81:636,1976.

14. Gelatt KN et al: Clinical manifestations of inherited glaucoma in the beagle. Invest Ophthalmol Vis Sci 16: 1135, 1977.

15. Peiffer RL Jr, Gelatt KN: Aqueous humor outflow in beagles with inherited glaucoma: Gross and light microscopic observations of the iridocorneal angle. Am J Vet Res 41: 861, 1980.

16. Gelatt KN, Gum GG: Inheritance of primary glaucoma in the beagle. Am J Vet Res 42: 1691, 1981.

17. Gelatt KN, Gum GG: Inheritance of primary glaucoma in the beagle. Am J Vet Res 42:1691, 1981.

18. Slater, MR; Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Amer Vet Med Assoc. 188:1028, 1986.

19. Brooks D, Samuelson D, Gelatt K: Ultrastructural changes in laminar optic nerve capillaries of beagles with primary open-angle glaucoma. Am J Vet Res 50:929, 1989.

20. Brooks D, Samuelson D, Gelatt K, et al: Morphologic changes in the lamina cribrosa of beagles with primary open-angle glaucoma. Am J Vet Res 50:936, 1989.

21. Samuelson DA, Gum GG, Gelatt KN: Ultrastructural changes in the aqueous outflow apparatus of beagles with inherited glaucoma. Invest Ophthalmol Vis Sci 30:550, 1989.

22. Brooks DE, Strubbe DT, Kubilis PS, et al: Histomorphometry of the optic nerves of normal dogs and dogs with hereditary glaucoma. Exp Eye Res 60:71, 1995.

23. Gumm GG, Gelatt KN, Knepper PA: Histochemical localization of glycosaminoglycans in the aqueous outflow pathways in normal beagles and beagles with inherited glaucoma. Prog Vet Comp Ophthalmol 3:52, 1993.

24. Gelatt KN, Gum GG, MacKay EO, et al: Estimations of aqueous humor outflow facility by pneumotonography in the normal, genetic carrier and glaucomatous beagles. Vet Comp Ophthalmol 6:148, 1996.

25. Heywood R: Juvenile cataracts in the Beagle dog. J Small Anim Pract 12:171, 1971.

26. Hirth RS, Greenstein ET, Peer RL: Anterior capsular opacities (spurious cataracts) in beagle dogs. Vet Pathol 11:1881, 1974.

27. Bellhorn R, et al: Hereditary tapetal abnormality in the Beagle. Ophth Res 7:250, 1975.

28. Wen, et al: Changes in the tapetum of Beagles with heredity abnormality. Invest Ophth Vis Sci 23:733, 1982.

29. Burns MS et al: Development of hereditary tapetal degeneration in the beagle dog. Curr Eye Res 7:103, 1988.

30. Burns MS, et al: Melanosome abnormalities of ocular pigmented epithelial cells in Beagle dog with hereditary tapetal degeneration. Curr Eye Res 7:115, 1988.

31. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

BEAGLE

1991 - 1999 2000-2007 TOTAL NUMBER OF BEAGLE EXAMINED 429 563

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.47% 2 0.36% DRY EYE 1 0.23% 1 0.18% EYELIDS ENTROPION 1 0.23% 1 0.18% ECTROPION 10.18% DISTICHIASIS 55 12.82% 101 17.94% THIRD EYELID GLAND PROLAPSE 81.42% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.23% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.23% 1 0.18% DYSTROPHY--ENDOTHELIAL 1 0.23% 1 0.18% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.18% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 0.70% 8 1.42% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.23% 2 0.36% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 27 6.29% 13 2.31% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.93% ANTERIOR CORTEX PUNCTATE* 1 0.23% 2 0.36% ANTERIOR CORTEX INTERMEDIATE* 3 0.70% ANTERIOR CORTEX DIFFUSE* 1 0.23% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.70% 9 1.60% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.93% POSTERIOR CORTEX PUNCTATE* 1 0.23% POSTERIOR CORTEX INTERMEDIATE* 8 1.86% 4 0.71% POSTERIOR CORTEX DIFFUSE* 1 0.23% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.18% EQUATORIAL CORTEX INTERMEDIATE* 4 0.93% 2 0.36% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.23% 2 0.36% POSTERIOR SUTURES INTERMEDIATE* 1 0.23% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.23% 1 0.18% NUCLEUS INTERMEDIATE* 1 0.23% 2 0.36% NUCLEUS DIFFUSE* 2 0.47% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.23% 2 0.36% CAPSULAR PUNCTATE 20.36% CAPSULAR INTERMEDIATE 20.36% CAPSULAR SIGN. UNKNOWN 2 0.47% 1 0.18% POSTERIOR CAPSULE 1 0.23% GENERALIZED CATARACT* 8 1.86% 4 0.71% SUBLUXATION/LUXATION 10.18% VITREOUS PERSISTENT HYALOID ARTERY 1 0.23%

BEAGLE

1991 - 1999 2000-2007 PHPV/PTVL 1 0.23% DEGENERATION (NO FURTHER SPECIFICATION) 10.18% DEGENERATION ANTERIOR CHAMBER 10.18% FUNDUS RETINAL ATROPHY--GENERALIZED 5 1.17% 1 0.18% RETINAL ATROPHY--SUSPICIOUS 1 0.23% RETINAL DYSPLASIA FOCAL/FOLDS 11 2.56% 12 2.13% RETINAL DYSPLASIA GEOGRAPHIC 20.36% RETINAL DETACHMENT 2 0.47% OPTIC NERVE COLOBOMA 10.18% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.47% OPTIC NERVE HYPOPLASIA 20.36% MICROPAPILLA 10.18% OTHER OTHER, INHERITED 5 1.17% 3 0.53% OTHER, NON -INHERITED 2 0.47% 35 6.22% NORMAL NORMAL 329 76.69% 417 74.07%

BEARDED COLLIE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

B. Persistent pupillary Membranes- iris to iris Not defined 1,3 Breeder option all other forms Not defined 3 NO

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 1 Breeder option - folds

E. Choroidal hypoplasia Not defined 2, 3 NO

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

E. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly"

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Bearded Collie breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

BEARDED COLLIE

1991 - 1999 2000-2007 TOTAL NUMBER OF BEARDED COLLIE EXAMINED 1485 1467

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.13% EYELIDS DISTICHIASIS 8 0.54% 8 0.55% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 18 1.21% 17 1.16% DYSTROPHY--ENDOTHELIAL 10.07% UVEA IRIS / CILIARY BODY CYSTS 1 0.07% 4 0.27% IRIS COLOBOMA 1 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 45 3.03% 68 4.64% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.07% 3 0.20% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.07% 1 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.07% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 85 5.72% 59 4.02% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.47% ANTERIOR CORTEX PUNCTATE* 24 1.62% 7 0.48% ANTERIOR CORTEX INTERMEDIATE* 13 0.88% 14 0.95% ANTERIOR CORTEX DIFFUSE* 1 0.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 42 2.83% 41 2.79% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.13% POSTERIOR CORTEX PUNCTATE* 10 0.67% 3 0.20% POSTERIOR CORTEX INTERMEDIATE* 9 0.61% 16 1.09% POSTERIOR CORTEX DIFFUSE* 10.07% POST. CORTEX PUNCT. SIGN. UNKNOWN 15 1.01% 11 0.75% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.13% EQUATORIAL CORTEX PUNCTATE* 14 0.94% 12 0.82% EQUATORIAL CORTEX INTERMEDIATE* 5 0.34% 13 0.89% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 22 1.48% 23 1.57% ANTERIOR SUTURES PUNCTATE* 3 0.20% 1 0.07% ANTERIOR SUTURES INTERMEDIATE* 1 0.07% 2 0.14% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.20% 6 0.41% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.07% POSTERIOR SUTURES PUNCTATE* 13 0.88% 1 0.07% POSTERIOR SUTURES INTERMEDIATE* 80.55% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 22 1.48% 48 3.27% NUCLEUS PUNCTATE* 1 0.07% 3 0.20% NUCLEUS INTERMEDIATE* 8 0.54% 4 0.27% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.34% 13 0.89% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.07% CAPSULAR PUNCTATE 3 0.20% 3 0.20% CAPSULAR INTERMEDIATE 2 0.13% 5 0.34% CAPSULAR DIFFUSE 10.07% CAPSULAR SIGN. UNKNOWN 4 0.27% 20 1.36% GENERALIZED CATARACT* 1 0.07%

BEARDED COLLIE

1991 - 1999 2000-2007 SUBLUXATION/LUXATION 1 0.07% 4 0.27% VITREOUS PERSISTENT HYALOID ARTERY 5 0.34% 1 0.07% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.07% 2 0.14% DEGENERATION ANTERIOR CHAMBER 10.07% DEGENERATION SYNERESIS 10.07% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.20% RETINAL ATROPHY--SUSPICIOUS 1 0.07% 2 0.14% RETINAL DYSPLASIA FOCAL/FOLDS 21 1.41% 22 1.50% CHOROIDAL HYPOPLASIA 7 0.47% 14 0.95% STAPHYLOMA / COLOBOMA 1 0.07% 3 0.20% OPTIC NERVE COLOBOMA 10.07% OTHER OTHER, INHERITED 15 1.01% 5 0.34% OTHER, NON -INHERITED 10 0.67% 53 3.61% NORMAL NORMAL 1191 80.20% 1191 81.19%

BEDLINGTON TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1 NO

B. Distichiasis Not defined 1 Breeder option

C. Imperforate Not defined 1-3 Breeder option lacrimal punctum

D. Persistent pupillary Membranes iris to iris Not defined 7,8 Breeder option all other forms Not defined 8 NO

E. Cataract Not defined 1 NO

F. Retinal dysplasia Not defined 1 Breeder option -folds

G. Retinal dysplasia Presumed 1,4,5,6 NO - geographic/ autosomal detached recessive

Description and Comments

A. Microphthalmia

B. Distichiasis

C. Imperforate lacrimal punctum

A developmental anomaly resulting in failure of opening of the lacrimal duct located at the medial lid margins. The lower punctum is more frequently affected. This defect usually results in epiphora, an overflow of tears onto the face.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

These two forms are associated with vision impairment or blindness. Retinal dysplasia is known to be inherited in many breeds. The genetic relationship between the three forms of retinal dysplasia is not known for all breeds.

In the Bedlington terrier, studies have indicated an autosomal recessive mode of inheritance for this form of retinal dysplasia. Affected animals are generally blind at birth due to

complete retinal detachment and disorganization. Cataracts may also be seen with this condition.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Gelatt KN: Pediatric ophthalmology in small animal practice. In Aguirre G (ed): The Veterinary Clinics of North America, Vol 3, No 3, WB Saunders Co, Philadelphia, 1973.

3. Barnett K: Imperforate and micro-lachrymal puncta in the dog. J Small Anim Pract 20:481, 1979.

4. Rubin LF: Heredity of retinal dysplasia in Bedlington terriers- a preliminary report. J Amer Vet Med Assoc, 152:260, 1968.

5. Rubin LF: Hereditary retinal detachment in Bedlington terriers. Vet Med Small Anim Clin 3:387, 1963.

6. Rubin LF: Heredity of retinal dysplasia in the Bedlington terrier. J Am Vet Med Assoc 152:260, 1968.

7. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

BEDLINGTON TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF BEDLINGTON TERRIER EXAMINED 416 663

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.24% 2 0.30% EYELIDS ENTROPION 1 0.24% 1 0.15% DISTICHIASIS 49 11.78% 37 5.58% ECTOPIC CILIA 2 0.48% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 4 0.96% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.24% 5 0.75% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 1.20% 55 8.30% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.96% 1 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.48% 1 0.15% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 25 6.01% 56 8.45% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.72% ANTERIOR CORTEX PUNCTATE* 60.90% ANTERIOR CORTEX INTERMEDIATE* 7 1.68% 19 2.87% ANTERIOR CORTEX DIFFUSE* 1 0.24% 2 0.30% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 1.68% 16 2.41% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.72% POSTERIOR CORTEX PUNCTATE* 1 0.24% 1 0.15% POSTERIOR CORTEX INTERMEDIATE* 5 1.20% 7 1.06% POSTERIOR CORTEX DIFFUSE* 1 0.24% 3 0.45% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.48% 3 0.45% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 3 0.72% EQUATORIAL CORTEX PUNCTATE* 60.90% EQUATORIAL CORTEX INTERMEDIATE* 10 2.40% 13 1.96% EQUATORIAL CORTEX DIFFUSE* 1 0.24% 1 0.15% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.96% 10 1.51% ANTERIOR SUTURES PUNCTATE* 1 0.24% ANTERIOR SUTURES INTERMEDIATE* 40.60% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.96% 5 0.75% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.24% POSTERIOR SUTURES PUNCTATE* 91.36% POSTERIOR SUTURES INTERMEDIATE* 60.90% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.72% 14 2.11% NUCLEUS INTERMEDIATE* 20.30% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.72% 1 0.15% ANTERIOR CAPSULE 1 0.24% CAPSULAR PUNCTATE 10.15% CAPSULAR SIGN. UNKNOWN 20.30% POSTERIOR CAPSULE 2 0.48% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.24%

BEDLINGTON TERRIER

1991 - 1999 2000-2007 GENERALIZED CATARACT* 20.30% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 0.24% 1 0.15% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.24% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.72% 3 0.45% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.15% RETINAL DETACHMENT 10.15% OPTIC NERVE COLOBOMA 1 0.24% 4 0.60% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.24% OTHER OTHER, INHERITED 3 0.72% 2 0.30% OTHER, NON -INHERITED 2 0.48% 30 4.52% NORMAL NORMAL 324 77.88% 504 76.02%

BELGIAN LAEKENOIS

There are 4 varieties of Belgian shepherd- the Groenendael, Laekenois, Malinois and Tervuren. In Europe these varieties may be interbred and are not considered genetically distinct thus it is likely that the same genetic diseases exist in both. In the United States the Groenendael (known as the Belgian sheepdog), Malinois and Tervuren are recognized as separate breeds while the Laekenois is not recognized at all.

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

Description and Comments

A. Distichiasis

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Belgian laekenois breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

BELGIAN LAEKENOIS

1991 - 1999 2000-2007 TOTAL NUMBER OF BELGIAN LAEKENOIS EXAMINED 18 72

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 56.94% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 11.39% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11.39% LENS ANT. CORTEX PUNCT. SIGN. UNKNOWN 11.39% POST. CORTEX PUNCT. SIGN. UNKNOWN 11.39% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11.39% CAPSULAR SIGN. UNKNOWN 22.78% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 5.56% 5 6.94% OTHER OTHER, NON -INHERITED 22.78% NORMAL NORMAL 17 94.44% 59 81.94%

BELGIAN MALINOIS

There are 4 varieties of Belgian shepherd- the Groenendael, Laekenois, Malinois and Tervuren. In Europe these varieties may be interbred and are not considered genetically distinct; thus, it is likely that the same genetic diseases exist in all. In the United States the Groenendael (known as the Belgian sheepdog), Malinois and Tervuren are recognized as separate breeds while the Laekenois is not recognized at all.

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Chronic superficial Not defined 2 NO keratitis/pannus

B. Persistent pupillary Not defined 4 Breeder option membranes - iris to iris

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 1 Breeder option - folds

E. Retinal degeneration Not defined 3,4 NO

Description and Comments

A. Chronic superficial keratitis/pannus

A bilateral inflammatory disease of the cornea which usually starts as a grayish haze to the ventral or ventrolateral cornea, followed by the formation of a vascularized subepithelial growth that begins to spread toward the central cornea; pigmentation follows the vascularization. If severe, vision impairment occurs. Pannus may be associated with plasma cell infiltration of the nictitans.

B. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

C. Cataract

In the Belgian Malinois, cataract most often occurs as a nonprogressive, triangular opacity in the posterior cortex.

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

E. Retinal degeneration

A unilateral or bilateral retinal disease which can be progressive. When bilateral, the ophthalmoscopic lesions are sometimes asymmetrical, particularly in the early stages of the disease. Fundus examination shows initially single or multiple focal retinal lesions that appear active (local infiltrative inflammation or granulation) or inactive. The lesions can progress resulting in widespread retinal atrophy. The end-stage ophthalmoscopic lesions vary and may appear indistinguishable from PRA, or may be more characteristic of an inflammatory retinopathy. The asymmetry of the fundus abnormalities and the presence of inflammatory lesions in the retina and choroid help to differentiate this disorder from PRA. The mode of inheritance of this disease is not known; however, studies of different families suggest that it is possibly inherited. An intriguing aspect of the disease has been the preponderance of affected males compared to females. This has been confirmed in a recent unpublished survey.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Belgian Malinois breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

BELGIAN MALINOIS

1991 - 1999 2000-2007 TOTAL NUMBER OF BELGIAN MALINOIS EXAMINED 562 938

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 2 0.36% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 7 1.25% 5 0.53% DYSTROPHY--ENDOTHELIAL 20.21% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.36% 1 0.11% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.11% UVEA IRIS / CILIARY BODY CYSTS 1 0.18% 3 0.32% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.71% 11 1.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 27 4.80% 31 3.30% ANTERIOR CORTEX PUNCTATE* 4 0.71% 3 0.32% ANTERIOR CORTEX INTERMEDIATE* 1 0.18% 6 0.64% ANT. CORTEX PUNCT. SIGN. UNKNOWN 9 1.60% 11 1.17% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.18% POSTERIOR CORTEX PUNCTATE* 40.43% POSTERIOR CORTEX INTERMEDIATE* 6 1.07% 8 0.85% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.18% 1 0.11% EQUATORIAL CORTEX PUNCTATE* 10.11% EQUATORIAL CORTEX INTERMEDIATE* 1 0.18% 3 0.32% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 30.32% ANTERIOR SUTURES PUNCTATE* 2 0.36% ANTERIOR SUTURES INTERMEDIATE* 4 0.71% 3 0.32% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.36% POSTERIOR SUTURES PUNCTATE* 40.43% POSTERIOR SUTURES INTERMEDIATE* 2 0.36% 5 0.53% POSTERIOR SUTURES DIFFUSE* 10.11% POSTERIOR SUTURES SUSPICIOUS 1 0.18% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 60.64% NUCLEUS (SIZE UNSPECIFIED)* 2 0.36% NUCLEUS PUNCTATE* 10.11% NUCLEUS INTERMEDIATE* 8 1.42% 6 0.64% NUCLEUS DIFFUSE* 1 0.18% 1 0.11% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.53% 3 0.32% CAPSULAR PUNCTATE 10.11% CAPSULAR SIGN. UNKNOWN 50.53% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.18% GENERALIZED CATARACT* 20.21% SUBLUXATION/LUXATION 1 0.18% VITREOUS PERSISTENT HYALOID ARTERY 10.11% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.53% 2 0.21% DEGENERATION ANTERIOR CHAMBER 10.11% DEGENERATION SYNERESIS 30.32%

BELGIAN MALINOIS

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.36% 1 0.11% RETINAL ATROPHY--CENTRAL 1 0.18% RETINAL ATROPHY--SUSPICIOUS 4 0.71% 4 0.43% RETINAL DYSPLASIA FOCAL/FOLDS 14 2.49% 4 0.43% RETINAL DYSPLASIA GEOGRAPHIC 4 0.71% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.18% RETINAL DETACHMENT 2 0.36% 2 0.21% OTHER OTHER, INHERITED 8 1.42% OTHER, NON -INHERITED 4 0.71% 59 6.29% NORMAL NORMAL 484 86.12% 845 90.09%

BELGIAN SHEEPDOG (BELGIAN SHEPHERD-GROENENDAEL)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

B. Chronic superficial Not defined 1 NO keratitis/pannus

C. Persistent pupillary membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

D. Cataract Not defined 1 NO

E. Retinal atrophy Presumed 1,2,3 NO - generalized autosomal recessive

F. Retinal dysplasia Not defined 4,6 Breeder option - folds

G. Micropapilla Not defined 1 Breeder option

H. Achiasmic optic Autosomal recessive 5 NO nerves with nystagmus

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

B. Chronic superficial keratitis/pannus

C. Persistent pupillary membranes (PPM)

D. Cataract

In the Belgian sheepdog, cataract most often occurs as a nonprogressive, triangular opacity in the posterior cortex.

E. Retinal atrophy-generalized

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Micropapilla

H. Achiasmic optic nerves with nystagmus

Achiasmic optic nerves with nystagmus have been described in a small family of black Belgian sheepdogs. Congenital nystagmus is the clinical sign most commonly noted. All retinal ganglion cell axons extend directly into the ipsilateral optic disc with no chiasmal ducussation. No optic nerve hypoplasia/micropapilla was noted in the animals studied and reported.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Wolf ED, Samuelson D: Retinopathy in a family of Belgium shepherds. Proc American College of Veterinary Ophthalmologists, 12: supplement, 1981.

3. Miller TR, et al: Generalized retinopathy in the Belgian sheepdog. Invest Ophthalmol Vis Sci 27(Suppl): 310, 1986.

4. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

5. Hogan D, Williams RW: Analysis of the retinas and optic nerves of achiasmic Belgian sheepdog. J Comp Neurol 52(3):367-380, 1995.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

BELGIAN SHEEPDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF BELGIAN SHEEPDOG EXAMINED 1742 2082

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 10.05% EYELIDS ECTROPION 10.05% DISTICHIASIS 4 0.23% 4 0.19% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 11 0.63% 10 0.48% DYSTROPHY--ENDOTHELIAL 1 0.06% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 11 0.63% 16 0.77% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.06% 2 0.10% UVEA IRIS / CILIARY BODY CYSTS 20.10% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 78 4.48% 141 6.77% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 30.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 30.14% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.11% 3 0.14% ENDOTHELIAL PIGMENT/NO PPM 10.05% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 49 2.81% 64 3.07% ANTERIOR CORTEX PUNCTATE* 80.38% ANTERIOR CORTEX INTERMEDIATE* 3 0.17% 16 0.77% ANTERIOR CORTEX SUSPICIOUS 2 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 16 0.92% 25 1.20% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.23% POSTERIOR CORTEX PUNCTATE* 10 0.57% 17 0.82% POSTERIOR CORTEX INTERMEDIATE* 15 0.86% 28 1.34% POSTERIOR CORTEX SUSPICIOUS 2 0.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 9 0.52% 12 0.58% EQUATORIAL CORTEX PUNCTATE* 30.14% EQUATORIAL CORTEX INTERMEDIATE* 6 0.34% 3 0.14% EQUATORIAL CORTEX SUSPICIOUS 1 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 8 0.46% 6 0.29% ANTERIOR SUTURES PUNCTATE* 1 0.06% 1 0.05% ANTERIOR SUTURES INTERMEDIATE* 1 0.06% 3 0.14% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.23% 2 0.10% POSTERIOR SUTURES PUNCTATE* 4 0.23% 3 0.14% POSTERIOR SUTURES INTERMEDIATE* 5 0.29% 6 0.29% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.17% 9 0.43% NUCLEUS (SIZE UNSPECIFIED)* 1 0.06% NUCLEUS PUNCTATE* 1 0.06% 3 0.14% NUCLEUS INTERMEDIATE* 10 0.57% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.17% 3 0.14% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.06% ANTERIOR CAPSULE SUSPICIOUS 1 0.06%

BELGIAN SHEEPDOG

1991 - 1999 2000-2007 CAPSULAR PUNCTATE 30.14% CAPSULAR INTERMEDIATE 20.10% CAPSULAR SIGN. UNKNOWN 1 0.06% 12 0.58% POSTERIOR CAPSULE 5 0.29% POSTERIOR CAPSULE SIGN. UNKNOWN 3 0.17% POSTERIOR CAPSULE SUSPICIOUS 2 0.11% GENERALIZED CATARACT* 20.10% VITREOUS PERSISTENT HYALOID ARTERY 1 0.06% 2 0.10% DEGENERATION (NO FURTHER SPECIFICATION) 10.05% FUNDUS RETINAL ATROPHY--GENERALIZED 10.05% RETINAL ATROPHY--SUSPICIOUS 1 0.06% 2 0.10% RETINAL DYSPLASIA FOCAL/FOLDS 6 0.34% 27 1.30% RETINAL DYSPLASIA GEOGRAPHIC 2 0.11% 2 0.10% STAPHYLOMA / COLOBOMA 1 0.06% OPTIC NERVE COLOBOMA 5 0.29% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 11 0.63% MICROPAPILLA 1 0.06% 9 0.43% OTHER OTHER, INHERITED 11 0.63% 6 0.29% OTHER, NON -INHERITED 5 0.29% 95 4.56% NORMAL NORMAL 1503 86.28% 1804 86.65%

BELGIAN TERVUREN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4 Breeder option

B. Chronic superficial Not defined 1, 3 NO keratitis/pannus

C. Persistent pupillary membranes - iris to iris Not defined 1,4 Breeder option - all other forms Not defined 4 NO

D. Cataract Not defined 1 NO

E. Retinal atrophy Presumed 1 NO - generalized autosomal recessive

F. Retinal dysplasia Not defined 2,4 Breeder option - folds

G. Retinal dysplasia Not defined 4 NO - geographic

H. Micropapilla Not defined 1 Breeder option

Description and Comments

A. Distichiasis

B. Chronic superficial keratitis/pannus

C. Persistent pupillary membranes (PPM)

D. Cataract

In the Belgian tervuren, cataract most often occurs as a nonprogressive, triangular opacity in the posterior cortex.

E. Retinal atrophy-generalized

In the Tervuren concern has been high regarding PRA. Recently, an entire litter from known carrier background were examined with 4 of 6 individuals affected. Age of clinical onset appears to be about 4-5yrs.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinal dysplasia- geographic

Abnormal development of the retina present at birth. Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

H. Micropapilla

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Belgian Tervuren breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. Chavkin MJ, Roberts SM, Salman MD, Severin GA, Scholten NJ: Risk factors for development of chronic superficial keratitis in dogs. JAVMA 204(10): 1630-1634, 1994.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

BELGIAN TERVUREN

1991 - 1999 2000-2007 TOTAL NUMBER OF BELGIAN TERVUREN EXAMINED 4447 4476

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.04% 2 0.04% GLAUCOMA 1 0.02% EYELIDS ENTROPION 1 0.02% 2 0.04% DISTICHIASIS 36 0.81% 44 0.98% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.02% GLAND PROLAPSE 10.02% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 25 0.56% 18 0.40% DYSTROPHY--ENDOTHELIAL 4 0.09% 3 0.07% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 11 0.25% 34 0.76% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 20.04% UVEA IRIS / CILIARY BODY CYSTS 5 0.11% 4 0.09% IRIS COLOBOMA 1 0.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 196 4.41% 371 8.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 6 0.13% 5 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.04% 2 0.04% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.11% 8 0.18% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 141 3.17% 138 3.08% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 14 0.31% ANTERIOR CORTEX PUNCTATE* 12 0.27% 23 0.51% ANTERIOR CORTEX INTERMEDIATE* 22 0.49% 18 0.40% ANTERIOR CORTEX DIFFUSE* 20.04% ANTERIOR CORTEX SUSPICIOUS 5 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 83 1.87% 113 2.52% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 24 0.54% POSTERIOR CORTEX PUNCTATE* 20 0.45% 34 0.76% POSTERIOR CORTEX INTERMEDIATE* 36 0.81% 56 1.25% POSTERIOR CORTEX DIFFUSE* 2 0.04% 1 0.02% POSTERIOR CORTEX SUSPICIOUS 6 0.13% POST. CORTEX PUNCT. SIGN. UNKNOWN 19 0.43% 31 0.69% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.02% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 4 0.09% EQUATORIAL CORTEX PUNCTATE* 3 0.07% 8 0.18% EQUATORIAL CORTEX INTERMEDIATE* 2 0.04% 8 0.18% EQUATORIAL CORTEX DIFFUSE* 10.02% EQUATORIAL CORTEX SUSPICIOUS 2 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20 0.45% 18 0.40% ANTERIOR SUTURES PUNCTATE* 1 0.02% 1 0.02% ANTERIOR SUTURES INTERMEDIATE* 1 0.02% 3 0.07% ANTERIOR SUTURES DIFFUSE* 10.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.16% 14 0.31%

BELGIAN TERVUREN

1991 - 1999 2000-2007 POSTERIOR SUTURES (SIZE UNSPECIFIED)* 7 0.16% POSTERIOR SUTURES PUNCTATE* 10 0.22% 8 0.18% POSTERIOR SUTURES INTERMEDIATE* 8 0.18% 14 0.31% POSTERIOR SUTURES DIFFUSE* 20.04% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 16 0.36% 23 0.51% NUCLEUS PUNCTATE* 2 0.04% NUCLEUS INTERMEDIATE* 20.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 7 0.16% 10 0.22% ANTERIOR CAPSULE SIGN. UNKNOWN 5 0.11% ANTERIOR CAPSULE SUSPICIOUS 1 0.02% CAPSULAR PUNCTATE 2 0.04% 10 0.22% CAPSULAR INTERMEDIATE 1 0.02% 11 0.25% CAPSULAR SIGN. UNKNOWN 9 0.20% 50 1.12% POSTERIOR CAPSULE 10 0.22% POSTERIOR CAPSULE SIGN. UNKNOWN 8 0.18% POSTERIOR CAPSULE SUSPICIOUS 6 0.13% GENERALIZED CATARACT* 2 0.04% 1 0.02% SUBLUXATION/LUXATION 1 0.02% VITREOUS PERSISTENT HYALOID ARTERY 4 0.09% 2 0.04% PHPV/PTVL 20.04% DEGENERATION (NO FURTHER SPECIFICATION) 5 0.11% 7 0.16% DEGENERATION SYNERESIS 10.02% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.07% 4 0.09% RETINAL ATROPHY--SUSPICIOUS 12 0.27% 2 0.04% RETINAL DYSPLASIA FOCAL/FOLDS 14 0.31% 19 0.42% RETINAL DYSPLASIA GEOGRAPHIC 5 0.11% 2 0.04% CHOROIDAL HYPOPLASIA 1 0.02% STAPHYLOMA / COLOBOMA 10.02% RETINAL DETACHMENT 1 0.02% OPTIC NERVE COLOBOMA 2 0.04% 2 0.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 84 1.89% OPTIC NERVE HYPOPLASIA 30.07% MICROPAPILLA 8 0.18% 54 1.21% OTHER OTHER, INHERITED 38 0.85% 8 0.18% OTHER, NON -INHERITED 27 0.61% 203 4.54% NORMAL NORMAL 3748 84.28% 3753 83.85%

BERNESE MOUNTAIN DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 Breeder option

B. Ectropion Not defined 9,11 Breeder option

C. Distichiasis Not defined 8 Breeder option

D. Persistent pupillary Not defined 11 Breeder option membranes -iris to iris

E. Cataract Not defined 8,11 NO

F. Retinal atrophy Not defined 1,10 NO - generalized

G. Systemic Not defined 2-7 NO histiocytosis

Description and Comments

A. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

B. Ectropion

A conformational defect resulting in eversion of the eyelid(s), which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Distichiasis

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal atrophy-generalized

In the Bernese Mountain dog, one French report found the early onset retinopathy to be functionally and electroretinographically similar to the congenital stationary night blindness (retinal dystrophy) seen in the Briard.

G. Systemic histiocytosis

An inflammatory, non-neoplastic disease arising from activated dermal Langerhans cells with an absence of infectious agents that responds to immunoregulatory drugs suggesting immune dysregulatory mechanisms. Seen as conjunctivitis, episcleritis, anterior and posterior uveitis, retinal detachments, and glaucoma. Malignant histiocytosis is a malignant histiocytic disease that is familial in the Bernese Mountain dog with a polygenic mode of inheritance that represents up to 25% of all tumors in the breed.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Moore PF, Rosin A: Malignant histiocytosis of Bernese Mountain dogs. Vet Pathol 23:1, 1986.

3. Rosin A, Moore P, Dubielzig R: Malignant histiocytosis in Bernese Mountain dogs. J Am Vet Med Assoc 188:1041, 1986.

4. Cherlie PH, Smedes SL, Feltz T, et al: Ocular manifestations of systemic histiocytosis in a dog. J Am Vet Med Assoc 201:1229, 1992.

5. Brearley MJ, Dunn KA, Smith KC, et al: Systemic histiocytosis in a Bernese mountain dog. J Small Anim Pract 35:271, 1994.

6. Padgett GA, Madewell BR, Keller ET, et al: Inheritance of histiocytosis in Bernese mountain dogs. J Small Anim Pract 36:93, 1995.

7. Paterson S, Boydell P, Pike R: Systemic histiocytosis in the Bernese mountain dog. J Small Anim Pract 36:233, 1995.

8. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

9. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

10. Chaudieu G, Molon-Noblot S: Early retinopathy in the Bernese Mountain dog in France: preliminary observations. Vet Ophth 7(3): 175, 2004.

11. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

BERNESE MOUNTAIN DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF BERNESE MOUNTAIN DOG EXAMINED 2881 7016

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 3 0.10% 1 0.01% EYELIDS ENTROPION 52 1.80% 129 1.84% ECTROPION 24 0.83% 51 0.73% DISTICHIASIS 23 0.80% 50 0.71% EURY/MACRO BLEPHARON 8 0.28% 10 0.14% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10 0.14% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10 0.35% 29 0.41% DYSTROPHY--ENDOTHELIAL 3 0.10% 1 0.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 20.03% UVEA IRIS / CILIARY BODY CYSTS 7 0.24% 24 0.34% IRIS COLOBOMA 40.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 59 2.05% 271 3.86% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 7 0.24% 6 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.07% 2 0.03% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 40.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 101 3.51% 279 3.98% ANTERIOR CORTEX PUNCTATE* 13 0.45% 32 0.46% ANTERIOR CORTEX INTERMEDIATE* 10 0.35% 21 0.30% ANTERIOR CORTEX DIFFUSE* 1 0.03% 1 0.01% ANT. CORTEX PUNCT. SIGN. UNKNOWN 68 2.36% 230 3.28% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.03% POSTERIOR CORTEX PUNCTATE* 18 0.62% 44 0.63% POSTERIOR CORTEX INTERMEDIATE* 33 1.15% 82 1.17% POSTERIOR CORTEX DIFFUSE* 3 0.10% 4 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 14 0.49% 29 0.41% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.03% EQUATORIAL CORTEX PUNCTATE* 9 0.31% 21 0.30% EQUATORIAL CORTEX INTERMEDIATE* 10 0.35% 63 0.90% EQUATORIAL CORTEX DIFFUSE* 1 0.03% 1 0.01% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 14 0.49% 56 0.80% ANTERIOR SUTURES PUNCTATE* 2 0.07% 4 0.06% ANTERIOR SUTURES INTERMEDIATE* 50.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.24% 19 0.27% POSTERIOR SUTURES PUNCTATE* 4 0.14% 19 0.27% POSTERIOR SUTURES INTERMEDIATE* 7 0.24% 16 0.23% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 12 0.42% 36 0.51% NUCLEUS (SIZE UNSPECIFIED)* 1 0.03% NUCLEUS PUNCTATE* 3 0.10% 5 0.07% NUCLEUS INTERMEDIATE* 8 0.28% 14 0.20% NUCLEUS DIFFUSE* 2 0.07% 3 0.04%

BERNESE MOUNTAIN DOG

1991 - 1999 2000-2007 NUCLEUS SUSPICIOUS 1 0.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 7 0.24% 38 0.54% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% CAPSULAR PUNCTATE 1 0.03% 10 0.14% CAPSULAR INTERMEDIATE 6 0.21% 24 0.34% CAPSULAR DIFFUSE 30.04% CAPSULAR SIGN. UNKNOWN 10 0.35% 102 1.45% POSTERIOR CAPSULE 2 0.07% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% POSTERIOR CAPSULE SUSPICIOUS 1 0.03% GENERALIZED CATARACT* 1 0.03% 5 0.07% SUBLUXATION/LUXATION 2 0.07% 4 0.06% VITREOUS PERSISTENT HYALOID ARTERY 7 0.24% 12 0.17% PHPV/PTVL 2 0.07% DEGENERATION (NO FURTHER SPECIFICATION) 7 0.24% 11 0.16% DEGENERATION ANTERIOR CHAMBER 50.07% DEGENERATION SYNERESIS 20.03% FUNDUS RETINAL ATROPHY--GENERALIZED 4 0.14% 10 0.14% RETINAL ATROPHY--SUSPICIOUS 13 0.45% 15 0.21% RETINAL DYSPLASIA FOCAL/FOLDS 7 0.24% 9 0.13% RETINAL DYSPLASIA GEOGRAPHIC 1 0.03% 3 0.04% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.01% CHOROIDAL HYPOPLASIA 10.01% RETINAL DETACHMENT 30.04% RETINAL HEMORRHAGE 20.03% OPTIC NERVE COLOBOMA 7 0.24% 13 0.19% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.14% OPTIC NERVE HYPOPLASIA 14 0.20% MICROPAPILLA 3 0.10% 8 0.11% OTHER OTHER, INHERITED 15 0.52% 32 0.46% OTHER, NON -INHERITED 38 1.32% 365 5.20% NORMAL NORMAL 2434 84.48% 5947 84.76%

BICHON FRISE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

C. Persistent pupillary membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

D. Cataract Not defined 1-5 NO

E. Vitreous degeneration - syneresis Not defined 7 Breeder option

F. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Persistent pupillary membranes (PPM)

In the Bichon Frise, many of these strands bridge between the iris and cornea where they may be associated with corneal opacities and vision impairment.

D. Cataract

The range in age of animals affected with cataracts in one study was 1-2 years to 9-10 years old, with the peak age of 3 years old. The cataracts involved all regions of the lens, but in age groups of 2-4 years old, the predominant regions affected were the posterior cortex, and the anterior and posterior cortices combined. The earliest abnormalities usually consisted of small punctate opacities in the paracentral posterior cortex, independent of the posterior lens sutures.

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. Gelatt KN, Mackay EO, Dao V et al: Inherited cataracts in the bichon fries: a preliminary report. Proceedings American College of Veterinary Ophthalmologists, 1996, 88.

3. Gelett, KN, Wallace MR, Andrew SE, Mackay EO, Samuelson DM: Cataracts in the Bichon Frise: Vet Ophthalmol: 2003;6;1;3-9.

4. Schmidt GM, Vanisi SJ Vet Ophthalmol 7:5, 2004.

5. Gelatt, K.. N. et al: Cataract in the Bichon Frise. ECVO Proceedings 2002.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BICHON FRISE

1991 - 1999 2000-2007 TOTAL NUMBER OF BICHON FRISE EXAMINED 3304 3906

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.03% 1 0.03% DRY EYE 1 0.03% EYELIDS ENTROPION 3 0.09% 3 0.08% DISTICHIASIS 66 2.00% 142 3.64% ECTOPIC CILIA 1 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 80 2.42% 139 3.56% DYSTROPHY--ENDOTHELIAL 1 0.03% 3 0.08% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.03% UVEA IRIS COLOBOMA 1 0.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 48 1.45% 99 2.53% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 11 0.33% 2 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 22 0.67% 5 0.13% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 6 0.18% 2 0.05% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 201 6.08% 211 5.40% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 9 0.27% ANTERIOR CORTEX PUNCTATE* 34 1.03% 36 0.92% ANTERIOR CORTEX INTERMEDIATE* 25 0.76% 42 1.08% ANTERIOR CORTEX DIFFUSE* 14 0.42% 7 0.18% ANTERIOR CORTEX SUSPICIOUS 1 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 64 1.94% 106 2.71% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.24% POSTERIOR CORTEX PUNCTATE* 25 0.76% 35 0.90% POSTERIOR CORTEX INTERMEDIATE* 82 2.48% 85 2.18% POSTERIOR CORTEX DIFFUSE* 21 0.64% 17 0.44% POSTERIOR CORTEX SUSPICIOUS 1 0.03% POST. CORTEX PUNCT. SIGN. UNKNOWN 30 0.91% 38 0.97% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.03% EQUATORIAL CORTEX PUNCTATE* 4 0.12% 4 0.10% EQUATORIAL CORTEX INTERMEDIATE* 9 0.27% 18 0.46% EQUATORIAL CORTEX DIFFUSE* 7 0.21% 3 0.08% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.09% 11 0.28% ANTERIOR SUTURES PUNCTATE* 2 0.06% 3 0.08% ANTERIOR SUTURES INTERMEDIATE* 1 0.03% 1 0.03% ANTERIOR SUTURES DIFFUSE* 3 0.09% 1 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.33% 22 0.56% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.03% POSTERIOR SUTURES PUNCTATE* 11 0.33% 18 0.46% POSTERIOR SUTURES INTERMEDIATE* 14 0.42% 16 0.41% POSTERIOR SUTURES DIFFUSE* 3 0.09% 1 0.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 25 0.76% 25 0.64%

BICHON FRISE

1991 - 1999 2000-2007 NUCLEUS (SIZE UNSPECIFIED)* 1 0.03% NUCLEUS PUNCTATE* 40.10% NUCLEUS INTERMEDIATE* 3 0.09% 5 0.13% NUCLEUS DIFFUSE* 6 0.18% 2 0.05% NUCLEUS SUSPICIOUS 1 0.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.15% 11 0.28% ANTERIOR CAPSULE 1 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% CAPSULAR PUNCTATE 1 0.03% 5 0.13% CAPSULAR INTERMEDIATE 2 0.06% 5 0.13% CAPSULAR DIFFUSE 20.05% CAPSULAR SIGN. UNKNOWN 4 0.12% 12 0.31% POSTERIOR CAPSULE 1 0.03% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% POSTERIOR CAPSULE SUSPICIOUS 1 0.03% GENERALIZED CATARACT* 34 1.03% 19 0.49% GENERALIZED SUSPICIOUS 1 0.03% SUBLUXATION/LUXATION 1 0.03% 2 0.05% VITREOUS PERSISTENT HYALOID ARTERY 12 0.36% 3 0.08% PHPV/PTVL 10.03% DEGENERATION (NO FURTHER SPECIFICATION) 18 0.54% 20 0.51% DEGENERATION ANTERIOR CHAMBER 20.05% DEGENERATION SYNERESIS 80.20% FUNDUS RETINAL ATROPHY--GENERALIZED 9 0.27% 5 0.13% RETINAL ATROPHY--SUSPICIOUS 15 0.45% 17 0.44% RETINAL DYSPLASIA FOCAL/FOLDS 24 0.73% 24 0.61% RETINAL DYSPLASIA GEOGRAPHIC 3 0.09% STAPHYLOMA / COLOBOMA 1 0.03% RETINAL DETACHMENT 1 0.03% OPTIC NERVE COLOBOMA 8 0.24% 2 0.05% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.03% OTHER OTHER, INHERITED 19 0.58% 11 0.28% OTHER, NON -INHERITED 13 0.39% 110 2.82% NORMAL NORMAL 2700 81.72% 3276 83.87%

BLACK AND TAN COONHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

B. Retinal dysplasia Not defined 2 Breeder option -folds

Description and Comments

A. Cataract

B. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Black and tan coonhound breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998. (See statistics under Coonhound.)

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004. (See statistics under Coonhound)

BLACK AND TAN COONHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF BLACK AND TAN COONHOUND EXAMINED 52

Diagnosic Name Number Percent Number Percent LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 11.92% NUCLEUS PUNCTATE* 11.92% VITREOUS PHPV/PTVL 11.92% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 11.92% OTHER OTHER, NON -INHERITED 11.92% NORMAL NORMAL 49 94.23%

BLACK RUSSIAN TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1,2 NO

Description and Comments

A. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Black russian terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1 . ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

2. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BLACK RUSSIAN TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF BLACK RUSSIAN TERRIER EXAMINED 3 117

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 21.71% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 21.71% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.85% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 54.27% ANTERIOR CORTEX PUNCTATE* 10.85% ANT. CORTEX PUNCT. SIGN. UNKNOWN 32.56% POSTERIOR CORTEX PUNCTATE* 10.85% POSTERIOR CORTEX INTERMEDIATE* 43.42% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.85% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.85% CAPSULAR SIGN. UNKNOWN 10.85% FUNDUS MICROPAPILLA 10.85% OTHER OTHER, INHERITED 10.85% OTHER, NON -INHERITED 65.13% NORMAL NORMAL 3 100.00% 107 91.45%

` BLOODHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Ectropion Not defined 1,2 Breeder option

B. Entropion Not defined 1,2,3 Breeder option

C. Macroblepharon Not defined 1,2 Breeder option

D. Prolapsed gland Not defined 1,2 Breeder option of the third eyelid

E. Persistent pupillary membranes iris to iris Not defined 4,5 Breeder option iris-cornea Not defined 5 NO all other forms Not defined 5 NO

F. Cataract Not defined 4 NO

G. Retinal dysplasia Not defined 4,5 Breeder option -focal folds

Description and Comment

A. Ectropion

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Macroblepharon

D. Prolapsed gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated. Commonly referred to as "cherry eye".

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Retinal dysplasia, focal folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Bloodhound breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39, 1976.

3. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

4. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

5. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

BLOODHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF BLOODHOUND EXAMINED 201 218

Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 10.46% EYELIDS ENTROPION 47 23.38% 51 23.39% ECTROPION 56 27.86% 62 28.44% DISTICHIASIS 2 1.00% 4 1.83% EURY/MACRO BLEPHARON 36 17.91% 33 15.14% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.50% GLAND PROLAPSE 1 0.50% 4 1.83% CORNEA DYSTROPHY--ENDOTHELIAL 2 1.00% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 1.00% 3 1.38% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 20.92% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 13 6.47% 3 1.38% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 1.00% 2 0.92% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 23 11.44% 12 5.50% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 6.47% 10 4.59% ANTERIOR CORTEX PUNCTATE* 6 2.99% 2 0.92% ANTERIOR CORTEX INTERMEDIATE* 4 1.99% 6 2.75% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 1.49% 2 0.92% POSTERIOR CORTEX PUNCTATE* 1 0.50% POSTERIOR CORTEX INTERMEDIATE* 3 1.49% 1 0.46% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.46% ANTERIOR SUTURES INTERMEDIATE* 2 1.00% 1 0.46% POSTERIOR SUTURES INTERMEDIATE* 10.46% NUCLEUS INTERMEDIATE* 1 0.50% 1 0.46% NUCLEUS DIFFUSE* 1 0.50% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.46% CAPSULAR PUNCTATE 1 0.50% 1 0.46% CAPSULAR INTERMEDIATE 41.83% POSTERIOR CAPSULE 1 0.50% VITREOUS PERSISTENT HYALOID ARTERY 10.46% PHPV/PTVL 10.46% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.50% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.50% RETINAL DYSPLASIA FOCAL/FOLDS 12 5.97% 18 8.26% RETINAL DETACHMENT 1 0.50% OPTIC NERVE COLOBOMA 1 0.50% OTHER OTHER, INHERITED 3 1.49% 5 2.29%

BLOODHOUND

1991 - 1999 2000-2007 OTHER, NON -INHERITED 4 1.99% 5 2.29% NORMAL NORMAL 73 36.32% 101 46.33%

BOLOGNESE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary Not defined 1 Breeder option membrane - iris to iris

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Bolognese breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004

BOLOGNESE

1991 - 1999 2000-2007 TOTAL NUMBER OF BOLOGNESE EXAMINED 60 229

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 31.31% DISTICHIASIS 10 16.67% 43 18.78% THIRD EYELID GLAND PROLAPSE 20.87% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 20.87% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 20.00% 41 17.90% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 1.67% 3 1.31% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 3.33% 7 3.06% ANTERIOR CORTEX INTERMEDIATE* 1 1.67% 1 0.44% ANTERIOR CORTEX DIFFUSE* 10.44% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.44% POSTERIOR CORTEX INTERMEDIATE* 10.44% POSTERIOR CORTEX DIFFUSE* 1 1.67% 1 0.44% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.44% EQUATORIAL CORTEX INTERMEDIATE* 10.44% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 1.67% 3 1.31% POSTERIOR SUTURES INTERMEDIATE* 1 1.67% 4 1.75% POSTERIOR SUTURES DIFFUSE* 1 1.67% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.44% NUCLEUS PUNCTATE SIGN. UNKNOWN 31.31% CAPSULAR INTERMEDIATE 10.44% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 4 6.67% DEGENERATION ANTERIOR CHAMBER 20.87% FUNDUS RETINAL ATROPHY--SUSPICIOUS 10.44% RETINAL DYSPLASIA FOCAL/FOLDS 1 1.67% 5 2.18% MICROPAPILLA 10.44% OTHER OTHER, INHERITED 1 1.67% 3 1.31% OTHER, NON -INHERITED 1 1.67% 15 6.55% NORMAL NORMAL 36 60.00% 150 65.50%

BORDER COLLIE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 11 Breeder option

B. Corneal dystrophy Not defined 11 Breeder option - epithelial/stromal

F. Persistent pupillary membranes - iris to iris Not defined 1,10 Breeder option - all other forms Not defined 10 NO

D. Lens luxation Not defined 2 NO

E. Cataract Not defined 1 NO

F. Retinal atrophy Suggested 1,4,5,14 NO - generalized X Linked

G. Retinal dysplasia Not defined 1 Breeder option - folds

H. Central progressive Not defined 3 NO retinal atrophy

I. Choroidal hypoplasia Autosomal 6,9,13 NO recessive

J. Ceroid lipofuscinosis Not defined 7,8,12 NO

Description and Comments

A. Distichiasis

B. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

D. Lens luxation

E. Cataract

F. Retinal atrophy-generalized

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as progressive retinal atrophy or PRA, may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. Except for X-linked PRA in the Siberian Husky and Border Collie and a dominant form in the Mastiff and Bull Mastiff, in all breeds studied to date, PRA is inherited as an autosomal recessive trait.

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

H. Central progressive retinal atrophy (CPRA)

A progressive retinal degeneration in which photoreceptor degeneration occurs secondary to disease of the underlying pigment epithelium. Progression is slow and some animals may never lose vision. CPRA is a frequent occurrence in England, but is uncommon elsewhere.

A majority of Border collies with CPRA are diagnosed by two years of age, and the ophthalmoscopic appearance is similar to that of CPRA reported in the Labrador retriever. The most striking ophthalmoscopic feature is the appearance of multiple dark brown spots that vary considerably in size, shape and density. As with CPRA in other dog breeds, affected dogs will be visually impaired but may not lose vision completely.

I. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly"

J. Ceroid lipofuscinosis

An inherited disease of man and animals characterized by the accumulation of lipopigment in various tissues of the body including the eye. It results in progressive neurologic disease including blindness. (Also called Batten’s disease)

For DNA testing of ceroid lipofuscinosis contact: Animal Health Trust (UK): website: www.aht.org.uk.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Foster SJ, Curtis R, Barnett KC: Primary lens luxation in the Border collie. J Small Anim Pract 27:1, 1986.

3. McLellan GJ, Watson P, et al: Vitamin E deficiency in canine retinal pigment epithelial dystrophy (central progressive retinal atrophy). Proceedings American College of Veterinary Ophthalmologists 27:38, 1997.

4. Barnett KC et al: The International Sheep Dog Society and progressive retinal atrophy. J Small Anim Pract 10:301, 1969.

5. Barnett KC: Canine retinopathies III. The other breeds. J Small Anim Pract 6:185, 1965.

6. Bedford PGC: Collie eye anomaly in the Border collie. Vet Rec 111:34, 1982.

7. Jolly RD, Palmer DN, Studdert VP, et al: Canine ceroid-lipofuscinoses: A review and classification. J Small Anim Pract 35:299, 1994.

8. Taylor RM, Farrow BR: Ceroid lipofuscinosis in border collie dogs. Acta Neuropathol (Berl) 75:627, 1988.

9. Lowe, JK, Kukekova, AV, Kirkness, EF, Langlois, MC, Aguirre, GD, Ackland, GM, Ostrander, EA: Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86- 95, 2003.

10. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

11. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

12. Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287- 294, 2005.

13. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

14. Vilboux T, Chaudieu G, Jeannin P, et al: Progressive retinal atrophy in the Border Collie: a new XLPRA. BMC Vet Res 4:10, 2008 Mar 3.

BORDER COLLIE

1991 - 1999 2000-2007 TOTAL NUMBER OF BORDER COLLIE EXAMINED 8438 10760

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 6 0.07% 5 0.05% EYELIDS ENTROPION 1 0.01% DISTICHIASIS 35 0.41% 46 0.43% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 57 0.68% 70 0.65% DYSTROPHY--ENDOTHELIAL 30.03% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.02% 4 0.04% UVEA IRIS / CILIARY BODY CYSTS 1 0.01% 6 0.06% IRIS COLOBOMA 1 0.01% 7 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 305 3.61% 708 6.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 12 0.14% 16 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 13 0.15% 19 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.02% 12 0.11% ENDOTHELIAL PIGMENT/NO PPM 20.02% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 245 2.90% 223 2.07% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.09% ANTERIOR CORTEX PUNCTATE* 37 0.44% 40 0.37% ANTERIOR CORTEX INTERMEDIATE* 53 0.63% 51 0.47% ANTERIOR CORTEX DIFFUSE* 3 0.04% 3 0.03% ANTERIOR CORTEX SUSPICIOUS 4 0.05% ANT. CORTEX PUNCT. SIGN. UNKNOWN 95 1.13% 144 1.34% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 13 0.15% POSTERIOR CORTEX PUNCTATE* 21 0.25% 21 0.20% POSTERIOR CORTEX INTERMEDIATE* 36 0.43% 38 0.35% POSTERIOR CORTEX DIFFUSE* 2 0.02% POSTERIOR CORTEX SUSPICIOUS 2 0.02% POST. CORTEX PUNCT. SIGN. UNKNOWN 26 0.31% 33 0.31% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 5 0.06% EQUATORIAL CORTEX PUNCTATE* 15 0.18% 12 0.11% EQUATORIAL CORTEX INTERMEDIATE* 32 0.38% 51 0.47% EQUATORIAL CORTEX DIFFUSE* 2 0.02% 1 0.01% EQUATORIAL CORTEX SUSPICIOUS 2 0.02% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 15 0.18% 50 0.46% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.01% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.01% ANTERIOR SUTURES PUNCTATE* 4 0.05% 1 0.01% ANTERIOR SUTURES INTERMEDIATE* 3 0.04% 7 0.07% ANTERIOR SUTURES DIFFUSE* 1 0.01% 1 0.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 8 0.09% 18 0.17% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 13 0.15%

BORDER COLLIE

1991 - 1999 2000-2007 POSTERIOR SUTURES PUNCTATE* 35 0.41% 24 0.22% POSTERIOR SUTURES INTERMEDIATE* 10 0.12% 23 0.21% POSTERIOR SUTURES SUSPICIOUS 3 0.04% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 72 0.85% 199 1.85% NUCLEUS (SIZE UNSPECIFIED)* 6 0.07% NUCLEUS PUNCTATE* 8 0.09% 4 0.04% NUCLEUS INTERMEDIATE* 12 0.14% 7 0.07% NUCLEUS DIFFUSE* 10.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 28 0.33% 39 0.36% ANTERIOR CAPSULE 2 0.02% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.02% CAPSULAR PUNCTATE 4 0.05% 10 0.09% CAPSULAR INTERMEDIATE 4 0.05% 12 0.11% CAPSULAR SIGN. UNKNOWN 20 0.24% 83 0.77% POSTERIOR CAPSULE 8 0.09% POSTERIOR CAPSULE SIGN. UNKNOWN 8 0.09% POSTERIOR CAPSULE SUSPICIOUS 1 0.01% GENERALIZED CATARACT* 4 0.05% 4 0.04% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.01% SUBLUXATION/LUXATION 6 0.07% 6 0.06% VITREOUS PERSISTENT HYALOID ARTERY 25 0.30% 37 0.34% PHPV/PTVL 5 0.06% 11 0.10% DEGENERATION (NO FURTHER SPECIFICATION) 26 0.31% 42 0.39% DEGENERATION ANTERIOR CHAMBER 20.02% DEGENERATION SYNERESIS 14 0.13% FUNDUS RETINAL ATROPHY--GENERALIZED 31 0.37% 45 0.42% RETINAL ATROPHY--SUSPICIOUS 66 0.78% 42 0.39% RETINAL DYSPLASIA FOCAL/FOLDS 58 0.69% 96 0.89% RETINAL DYSPLASIA GEOGRAPHIC 7 0.08% 7 0.07% CHOROIDAL HYPOPLASIA 166 1.97% 210 1.95% STAPHYLOMA / COLOBOMA 11 0.13% 32 0.30% RETINAL DETACHMENT 6 0.07% 11 0.10% RETINAL HEMORRHAGE 4 0.05% 2 0.02% OPTIC NERVE COLOBOMA 45 0.53% 36 0.33% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 9 0.11% OPTIC NERVE HYPOPLASIA 60.06% MICROPAPILLA 10 0.09% OTHER OTHER, INHERITED 59 0.70% 30 0.28% OTHER, NON -INHERITED 53 0.63% 495 4.60% NORMAL NORMAL 7190 85.21% 9026 83.88%

BORDER TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4 Breeder option

B. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - all other forms Not defined 3 NO

C. Cataract Not defined 1 NO

D. Vitreous Not defined 1 Breeder option degeneration

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Border terrier breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

BORDER TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF BORDER TERRIER EXAMINED 933 2208

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 30.14% DISTICHIASIS 4 0.43% 14 0.63% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.21% 5 0.23% UVEA IRIS / CILIARY BODY CYSTS 10.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 0.32% 42 1.90% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.11% 2 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.09% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 43 4.61% 77 3.49% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.11% ANTERIOR CORTEX PUNCTATE* 6 0.64% 5 0.23% ANTERIOR CORTEX INTERMEDIATE* 9 0.96% 26 1.18% ANTERIOR CORTEX DIFFUSE* 1 0.11% 1 0.05% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11 1.18% 33 1.49% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.05% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.21% POSTERIOR CORTEX PUNCTATE* 3 0.32% 7 0.32% POSTERIOR CORTEX INTERMEDIATE* 6 0.64% 13 0.59% POSTERIOR CORTEX DIFFUSE* 1 0.11% 1 0.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 60.27% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.11% EQUATORIAL CORTEX PUNCTATE* 1 0.11% 6 0.27% EQUATORIAL CORTEX INTERMEDIATE* 14 1.50% 27 1.22% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 6 0.64% 18 0.82% ANTERIOR SUTURES PUNCTATE* 1 0.11% 1 0.05% ANTERIOR SUTURES INTERMEDIATE* 20.09% ANTERIOR SUTURES DIFFUSE* 10.05% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 80.36% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.11% POSTERIOR SUTURES PUNCTATE* 1 0.11% 3 0.14% POSTERIOR SUTURES INTERMEDIATE* 1 0.11% 5 0.23% POSTERIOR SUTURES DIFFUSE* 10.05% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.11% 42 1.90% NUCLEUS PUNCTATE* 30.14% NUCLEUS INTERMEDIATE* 7 0.75% 2 0.09% NUCLEUS DIFFUSE* 10.05% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.21% 5 0.23% ANTERIOR CAPSULE 2 0.21% CAPSULAR PUNCTATE 30.14% CAPSULAR INTERMEDIATE 30.14% CAPSULAR SIGN. UNKNOWN 1 0.11% 11 0.50% POSTERIOR CAPSULE 2 0.21%

BORDER TERRIER

1991 - 1999 2000-2007 GENERALIZED CATARACT* 2 0.21% 3 0.14% SUBLUXATION/LUXATION 10.05% VITREOUS PERSISTENT HYALOID ARTERY 2 0.21% 1 0.05% DEGENERATION (NO FURTHER SPECIFICATION) 11 1.18% 8 0.36% DEGENERATION ANTERIOR CHAMBER 10.05% DEGENERATION SYNERESIS 40.18% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.21% 2 0.09% RETINAL ATROPHY--SUSPICIOUS 2 0.21% 4 0.18% RETINAL DYSPLASIA FOCAL/FOLDS 70.32% RETINAL DYSPLASIA GEOGRAPHIC 2 0.21% 3 0.14% STAPHYLOMA / COLOBOMA 10.05% RETINAL DETACHMENT 10.05% OTHER OTHER, INHERITED 6 0.64% 4 0.18% OTHER, NON -INHERITED 7 0.75% 96 4.35% NORMAL NORMAL 843 90.35% 2004 90.76%

BORZOI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 4 Breeder option epithelial/stromal

B. Persistent pupillary Not defined 4 Breeder option membrane -iris to iris

C. Cataract Not defined 7 NO

D. Optic nerve Not defined 4 NO hypoplasia

E. Micropapilla Not defined 4 Breeder option

F. Retinal degeneration Not defined 1-3 NO

G. Retinopathy Not defined 5,6 Breeder option

Description and Comments

A. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membrane (PPM)

C. Cataract

D. Optic nerve hypoplasia

A congenital defect of the optic nerve which causes blindness and abnormal pupil response in the affected eye. May be unable to differentiate from micropapilla on a routine (dilated) screening ophthalmoscopic exam.

E. Micropapilla

Small optic disc which is not associated with vision impairment.

F. Retinal degeneration

A unilateral or bilateral retinal disease that affects young and adult Borzois and which can be progressive. When bilateral, the ophthalmoscopic lesions are often asymmetrical, particularly in the early stages of the disease. Fundus examination shows initially single or multiple focal retinal lesions that appear active (local infiltrative inflammation or granulation) or inactive. The lesions can progress resulting in widespread retinal atrophy. The end-stage ophthalmoscopic lesions vary and may appear indistinguishable from PRA, or may be more characteristic of an inflammatory retinopathy. The asymmetry of the fundus abnormalities and the presence of inflammatory lesions in the retina and choroid help to differentiate this disorder from PRA. The mode of inheritance of this disease is not known; however, studies of different families suggest that it is possibly inherited. An intriguing aspect of the disease has been the preponderance of affected males compared to females. This has been confirmed in a recent unpublished survey.

G. Retinopathy

Patchy focal uni- or bilateral hyper reflective tapetal lesions most frequently peripheral but occasionally central around a pigmented spot, usually non progressive. Not usually present prior to 3 months of age but usually present by 18 months of age.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Scagliotti R and MacMillan A: Retinal degeneration in the Borzoi. A preliminary report. Proc Am Coll Vet Ophthal 8:67, 1977.

3. Acland GM: Unpublished information, 1988/89.

4. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

5. Storey, E. S., and Grahn, B. H, et al: Multifocal Chorioretinal Lesions in Borzoi Dogs. Vet Ophthalmol 8, 377-347, 2005.

6. Chaudieu, G: PS4- An Update on Retinopathy in Borzois in France. An Asssessment of 350 Examinations (1990-1998). ECVO Proceedings, 1999 p54.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

BORZOI

1991 - 1999 2000-2007 TOTAL NUMBER OF BORZOI EXAMINED 792 1265

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.25% 4 0.32% EYELIDS DISTICHIASIS 4 0.51% 2 0.16% EURY/MACRO BLEPHARON 1 0.13% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 7 0.88% 4 0.32% DYSTROPHY--ENDOTHELIAL 10.08% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 7 0.88% 6 0.47% UVEA IRIS / CILIARY BODY CYSTS 40.32% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 20 2.53% 20 1.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 4 0.51% 2 0.16% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 6 0.76% 4 0.32% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 16 2.02% 20 1.58% ANTERIOR CORTEX PUNCTATE* 40.32% ANTERIOR CORTEX INTERMEDIATE* 3 0.38% 4 0.32% ANTERIOR CORTEX DIFFUSE* 1 0.13% ANT. CORTEX PUNCT. SIGN. UNKNOWN 18 1.42% POSTERIOR CORTEX PUNCTATE* 1 0.13% 2 0.16% POSTERIOR CORTEX INTERMEDIATE* 6 0.76% 5 0.40% POSTERIOR CORTEX SUSPICIOUS 1 0.13% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.13% 9 0.71% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.13% EQUATORIAL CORTEX INTERMEDIATE* 10.08% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.13% 1 0.08% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.13% ANTERIOR SUTURES PUNCTATE* 1 0.13% 1 0.08% ANTERIOR SUTURES INTERMEDIATE* 1 0.13% 1 0.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.13% 5 0.40% POSTERIOR SUTURES PUNCTATE* 3 0.38% 2 0.16% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.13% 8 0.63% NUCLEUS INTERMEDIATE* 1 0.13% NUCLEUS DIFFUSE* 1 0.13% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.25% 3 0.24% CAPSULAR PUNCTATE 2 0.25% CAPSULAR INTERMEDIATE 40.32% CAPSULAR SIGN. UNKNOWN 2 0.25% 17 1.34% GENERALIZED CATARACT* 1 0.13% 4 0.32% SUBLUXATION/LUXATION 4 0.51% VITREOUS PERSISTENT HYALOID ARTERY 3 0.38% 5 0.40% PHPV/PTVL 4 0.51% 2 0.16% DEGENERATION (NO FURTHER SPECIFICATION) 40.32% DEGENERATION ANTERIOR CHAMBER 10.08%

BORZOI

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.25% 2 0.16% RETINAL ATROPHY--SUSPICIOUS 4 0.51% 12 0.95% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.51% 3 0.24% RETINAL DYSPLASIA GEOGRAPHIC 3 0.38% 3 0.24% RETINAL DETACHMENT 2 0.25% RETINAL HEMORRHAGE 2 0.25% OPTIC NERVE COLOBOMA 2 0.25% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 10 1.26% OPTIC NERVE HYPOPLASIA 30.24% MICROPAPILLA 50.40% OTHER OTHER, INHERITED 19 2.40% 7 0.55% OTHER, NON -INHERITED 10 1.26% 87 6.88% NORMAL NORMAL 681 85.98% 1093 86.40%

BOSTON TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1,2 Breeder option - epithelial/stromal

C. Corneal dystrophy Not defined 1,3 NO - endothelial

D. Glaucoma Not defined 1,4,9 NO

E. Persistent pupillary membranes - iris to iris Not defined 1,8 Breeder option - all other forms Not defined 8 NO

F. Cataract Autosomal 1,5-7,10,11 NO recessive

G. Vitreous Not defined 8 Breeder option degeneration

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Corneal dystrophy-endothelial

In the Boston terrier, this is a primary degenerative endothelial disease leading to progressive and permanent corneal edema. It is not known if this disease is an inherited disorder. There is no sex predilection. The condition is observed in older dogs, 6 to 13 years of age with a mean of 9.5 years. The corneal edema starts asymptomatically in the dorsal temporal corneal quadrant of one eye and slowly progresses medially, eventually involving the entire cornea. Typically, it becomes bilateral. In the later stages, discomfort, intracorneal bullae with subsequent ulceration and keratoconus may develop.

D. Glaucoma

Glaucoma is characterized by an elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated intraocular pressure occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of the IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine screening exam for certification.

E. Persistent pupillary membranes (PPM)

F. Cataract

The Boston terrier has at least two distinct forms of inherited cataract. One type has an onset before 6 months of age with rapid progression to complete opacity prior to 2 years old. A second type of cataract occurs after 4-5 years of age with variable progression.

For DNA testing of early onset hereditary cataract contact: Animal Health Trust (UK): website: www.aht.org.uk.

G. Vitreous degeneration

A liquefication of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Cooley, PL, Dice DF. Corneal dystrophy in the dog and cat. Vet Clin No Am Small An Pract 20:681, 1990.

3. Martin CL, Dice PF: Corneal endothelial dystrophy in the dog. J Am Anim Hosp Assoc 18:327, 1982.

4. Slater, MR; Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Amer Vet Med Assoc. 188:1028, 1986.

5. Curtis R: Late onset cataract in the Boston terrier. Vet Res 115:755, 1984.

6. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

7. Barnett KC: Hereditary cataract in the dog. J Small Anim Pract 19:109, 1978.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

9. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Vet Ophthal. 2:97, 2004.

10. Mellersh CS, Pettitt L, Forman OP, et al: Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-378, 2006.

11. Mellersh CS, Graves KT, McLaughlin B, et al: Mutation in HSF4 associated with early but not late-onset hereditary cataract in Boston terrier. J Heredity 98(5):531-533, 2007.

BOSTON TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF BOSTON TERRIER EXAMINED 2723 5240

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.04% 1 0.02% DRY EYE 10.02% EYELIDS ENTROPION 2 0.07% 21 0.40% ECTROPION 2 0.07% DISTICHIASIS 80 2.94% 191 3.65% ECTOPIC CILIA 3 0.11% EURY/MACRO BLEPHARON 3 0.11% 5 0.10% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.02% GLAND PROLAPSE 3 0.11% 4 0.08% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 7 0.26% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 61 2.24% 137 2.61% DYSTROPHY--ENDOTHELIAL 5 0.18% 11 0.21% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 11 0.40% 4 0.08% UVEA IRIS / CILIARY BODY CYSTS 1 0.04% 14 0.27% IRIS COLOBOMA 2 0.07% 3 0.06% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 27 0.99% 191 3.65% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.04% 7 0.13% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.15% 1 0.02% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 3 0.11% 5 0.10% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 271 9.95% 462 8.82% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 38 1.40% ANTERIOR CORTEX PUNCTATE* 19 0.70% 55 1.05% ANTERIOR CORTEX INTERMEDIATE* 113 4.15% 288 5.50% ANTERIOR CORTEX DIFFUSE* 7 0.26% 11 0.21% ANTERIOR CORTEX SUSPICIOUS 4 0.15% ANT. CORTEX PUNCT. SIGN. UNKNOWN 19 0.70% 56 1.07% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.29% POSTERIOR CORTEX PUNCTATE* 11 0.40% 18 0.34% POSTERIOR CORTEX INTERMEDIATE* 34 1.25% 71 1.35% POSTERIOR CORTEX DIFFUSE* 4 0.15% 6 0.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.15% 12 0.23% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 10 0.37% EQUATORIAL CORTEX PUNCTATE* 9 0.33% 33 0.63% EQUATORIAL CORTEX INTERMEDIATE* 52 1.91% 132 2.52% EQUATORIAL CORTEX DIFFUSE* 1 0.04% 1 0.02% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 6 0.22% 26 0.50% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 6 0.22% ANTERIOR SUTURES PUNCTATE* 5 0.18% 8 0.15%

BOSTON TERRIER

1991 - 1999 2000-2007 ANTERIOR SUTURES INTERMEDIATE* 14 0.51% 37 0.71% ANTERIOR SUTURES DIFFUSE* 1 0.04% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.07% 5 0.10% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.15% POSTERIOR SUTURES PUNCTATE* 6 0.22% 4 0.08% POSTERIOR SUTURES INTERMEDIATE* 13 0.48% 9 0.17% POSTERIOR SUTURES SUSPICIOUS 2 0.07% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.11% 11 0.21% NUCLEUS (SIZE UNSPECIFIED)* 8 0.29% NUCLEUS PUNCTATE* 2 0.07% 1 0.02% NUCLEUS INTERMEDIATE* 4 0.15% 8 0.15% NUCLEUS DIFFUSE* 2 0.07% 5 0.10% NUCLEUS SUSPICIOUS 1 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.18% 6 0.11% ANTERIOR CAPSULE 4 0.15% ANTERIOR CAPSULE SUSPICIOUS 1 0.04% CAPSULAR PUNCTATE 1 0.04% 7 0.13% CAPSULAR INTERMEDIATE 1 0.04% 12 0.23% CAPSULAR DIFFUSE 10.02% CAPSULAR SIGN. UNKNOWN 1 0.04% 17 0.32% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.02% POSTERIOR CAPSULE 2 0.07% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.07% GENERALIZED CATARACT* 16 0.59% 17 0.32% SUBLUXATION/LUXATION 5 0.18% 5 0.10% VITREOUS PERSISTENT HYALOID ARTERY 11 0.40% 29 0.55% PHPV/PTVL 1 0.04% 2 0.04% DEGENERATION (NO FURTHER SPECIFICATION) 16 0.59% 49 0.94% DEGENERATION ANTERIOR CHAMBER 17 0.32% DEGENERATION SYNERESIS 13 0.25% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.04% 3 0.06% RETINAL ATROPHY--SUSPICIOUS 2 0.07% 4 0.08% RETINAL DYSPLASIA FOCAL/FOLDS 5 0.18% 14 0.27% RETINAL DYSPLASIA GEOGRAPHIC 3 0.11% 6 0.11% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.07% RETINAL DETACHMENT 1 0.04% RETINAL HEMORRHAGE 2 0.07% OPTIC NERVE HYPOPLASIA 20.04% OTHER OTHER, INHERITED 27 0.99% 35 0.67% OTHER, NON -INHERITED 13 0.48% 308 5.88% NORMAL NORMAL 2185 80.24% 4283 81.74%

BOUVIER DES FLANDRES

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1-3 NO

B. Entropion Not defined 6 Breeder option

C. Distichiasis Not defined 5 Breeder option

D. Corneal dystrophy Not defined 7 Breeder option -epithelial/stromal

E. Persistent pupillary Membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

F. Cataract Not defined 1 NO

G. Vitreous Not defined 7 Breeder option degeneration - syneresis

H. Persistent Not defined 1, 4 NO hyperplastic primary vitreous/Persistent hyperplastic tunica vasculosa lentis (PHPV/PHTVL)

I. Retinal dysplasia Not defined 5 Breeder option - folds

Description and Comments

A. Glaucoma

In this breed, primary glaucoma is associated with narrowed iridocorneal angles and various degrees of congenital angle malformations varying from mild to severe. Dysplastic pectinate ligaments and subsequent narrowed angles are similar to those described in the Basset and American and English Cocker Spaniels. The occurrence of glaucoma is related to the most severe abnormalities of the pectinate ligaments. The relationship between glaucoma development and the anomaly of the pectinate ligament is not clear.

B. Entropion

C. Distichiasis

D. Corneal Dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

H. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

In the Bouvier des Flandres, the condition is associated with retinal dysplasia and detachment, optic nerve hypoplasia, lenticonus, cataract and congenital blindness.

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Boeve' MH, Stades FC: Glaucoom bij hond en kat. Oversicht en retrospectieve evaluatie van 421 patienten I.Pathobiologischeachtergronden, indeling en raspredisposities. [Glaucoma in dogs and cats. Review and retrospective evaluation of 421 patients I. Pathobiological background, classification and breed predisposition]. Tijdschr Diergeneeskd 110: 219, 1985.

3. van der Linde-Sipman JS: Dysplasia of the pectinate ligament and primary glaucoma in the Bouvier des Flandres dog. Vet Pathol 24: 201, 1987.

4. Van Rensburg IBJ, Petrick S, Van der Lagt J, Smit M: Multiple inherited eye anomalies including persistent hyperplastic tunica vasculosa lentis in the Bouvier des Flandres. Prog Vet Comp Ophthal 2:143, 1992.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

BOUVIER DES FLANDRES

1991 - 1999 2000-2007 TOTAL NUMBER OF BOUVIER DES FLANDRES EXAMINED 1365 2093

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 10.05% EYELIDS ENTROPION 7 0.51% 13 0.62% ECTROPION 40.19% DISTICHIASIS 20 1.47% 12 0.57% EURY/MACRO BLEPHARON 1 0.07% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 9 0.66% 12 0.57% DYSTROPHY--ENDOTHELIAL 2 0.15% 1 0.05% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.05% UVEA IRIS / CILIARY BODY CYSTS 2 0.15% 6 0.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 85 6.23% 192 9.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.07% 9 0.43% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.07% 4 0.19% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.37% 1 0.05% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 78 5.71% 106 5.06% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.07% ANTERIOR CORTEX PUNCTATE* 5 0.37% 17 0.81% ANTERIOR CORTEX INTERMEDIATE* 4 0.29% 6 0.29% ANTERIOR CORTEX DIFFUSE* 20.10% ANTERIOR CORTEX SUSPICIOUS 1 0.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 30 2.20% 57 2.72% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.07% POSTERIOR CORTEX PUNCTATE* 13 0.95% 11 0.53% POSTERIOR CORTEX INTERMEDIATE* 33 2.42% 44 2.10% POSTERIOR CORTEX DIFFUSE* 7 0.51% 4 0.19% POSTERIOR CORTEX SUSPICIOUS 1 0.07% POST. CORTEX PUNCT. SIGN. UNKNOWN 14 1.03% 14 0.67% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.05% EQUATORIAL CORTEX PUNCTATE* 40.19% EQUATORIAL CORTEX INTERMEDIATE* 8 0.59% 9 0.43% EQUATORIAL CORTEX DIFFUSE* 3 0.22% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.15% 8 0.38% ANTERIOR SUTURES PUNCTATE* 1 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.22% 5 0.24% POSTERIOR SUTURES PUNCTATE* 4 0.29% 10 0.48% POSTERIOR SUTURES INTERMEDIATE* 7 0.51% 9 0.43% POSTERIOR SUTURES SUSPICIOUS 1 0.07% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 16 1.17% 46 2.20% NUCLEUS (SIZE UNSPECIFIED)* 1 0.07% NUCLEUS PUNCTATE* 3 0.22% 4 0.19% NUCLEUS INTERMEDIATE* 21 1.54% 8 0.38% NUCLEUS DIFFUSE* 7 0.51%

BOUVIER DES FLANDRES

1991 - 1999 2000-2007 NUCLEUS PUNCTATE SIGN. UNKNOWN 11 0.81% 14 0.67% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.07% ANTERIOR CAPSULE SUSPICIOUS 1 0.07% CAPSULAR PUNCTATE 17 0.81% CAPSULAR INTERMEDIATE 2 0.15% 4 0.19% CAPSULAR SIGN. UNKNOWN 5 0.37% 46 2.20% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.15% POSTERIOR CAPSULE SUSPICIOUS 1 0.07% GENERALIZED CATARACT* 1 0.07% 4 0.19% SUBLUXATION/LUXATION 1 0.07% 1 0.05% VITREOUS PERSISTENT HYALOID ARTERY 2 0.15% 4 0.19% PHPV/PTVL 1 0.07% 5 0.24% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.07% 3 0.14% DEGENERATION SYNERESIS 30.14% FUNDUS RETINAL ATROPHY--GENERALIZED 50.24% RETINAL ATROPHY--SUSPICIOUS 30.14% RETINAL DYSPLASIA FOCAL/FOLDS 12 0.88% 19 0.91% RETINAL DYSPLASIA GEOGRAPHIC 10.05% OPTIC NERVE COLOBOMA 1 0.07% 2 0.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.07% MICROPAPILLA 10.05% OTHER OTHER, INHERITED 36 2.64% 60 2.87% OTHER, NON -INHERITED 10 0.73% 105 5.02% NORMAL NORMAL 1055 77.29% 1633 78.02%

BOXER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectopic cilia Not defined 9 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Eury/Macroblepharon Not defined 7,8 Breeder option

E. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

F. Corneal dystrophy- Not defined 1-6 Breeder option epithelial erosion

G. Persistent pupillary Not defined 9 Breeder option membrane - iris to iris

H. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

In the Boxer, because there is significant clinical disease associated with the abnormal hairs, breeding of affected animal should be discouraged.

B. Ectopic cilia

Hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs and cause discomfort and corneal disease.

C. Ectropion

D. Eury/Macroblepharon

E. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

F. Corneal dystrophy- epithelial erosion

A general group of corneal ulcerative conditions (e.g. erosions, indolent or persistent ulcers, epithelial bonding defects) is recognized as a common problem in older boxers (as well as other older animals). It has been commonly referred to as Boxer corneal ulceration. Animals that are affected are usually 7-8 years of age or older. The ulceration can be a very difficult lesion to heal, and it is often recurrent. The chronic form stimulates eventual scarring, with vascularization, fibrosis and pigmentation of the lesion site. The lesion can cause vision impairment.

G. Persistent pupillary membranes (PPM)

H. Cataract

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Roberts SR: Superficial indolent ulcer in the cornea of Boxer dogs. J Small Anim Pract 6:111, 1965.

3. Gelatt KN: Indolent corneal ulcer in a boxer dog. Vet Med Small Anim Clin 65:353, 1970.

4. Peiffer RL, Gelatt KN, Gwin RM: Superficial keratectomy in the management of indolent ulcers of the Boxer dog. Canine Pract 2:31, 1976.

5. Gelatt KN, Samuelson DA: Recurrent corneal erosions and epithelial dystrophy in the Boxer dog. J Am Anim Hosp Assoc 18:453, 1982.

6. Kirschner SE, Niyo Y, Betts DM: Idiopathic persistent corneal erosions: clinical and pathological findings in 18 dogs. J Am Anim Hosp Assoc 25:84, 1989.

7. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

9. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

BOXER

1991 - 1999 2000-2007 TOTAL NUMBER OF BOXER EXAMINED 689 596

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 0.58% 1 0.17% EYELIDS ENTROPION 10.17% ECTROPION 24 3.48% 24 4.03% DISTICHIASIS 60 8.71% 79 13.26% ECTOPIC CILIA 30.50% EURY/MACRO BLEPHARON 6 0.87% 1 0.17% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 54 7.84% 52 8.72% DYSTROPHY--ENDOTHELIAL 2 0.29% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.17% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.15% UVEA IRIS / CILIARY BODY CYSTS 1 0.15% IRIS COLOBOMA 1 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 30.50% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.29% 1 0.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.58% 2 0.34% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.15% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 19 2.76% 19 3.19% ANTERIOR CORTEX PUNCTATE* 1 0.15% 1 0.17% ANTERIOR CORTEX INTERMEDIATE* 5 0.73% 8 1.34% ANTERIOR CORTEX DIFFUSE* 2 0.29% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 0.73% 5 0.84% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.15% POSTERIOR CORTEX INTERMEDIATE* 1 0.15% 1 0.17% EQUATORIAL CORTEX PUNCTATE* 1 0.15% 1 0.17% EQUATORIAL CORTEX INTERMEDIATE* 3 0.44% 4 0.67% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.15% 2 0.34% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.15% ANTERIOR SUTURES PUNCTATE* 20.34% ANTERIOR SUTURES INTERMEDIATE* 1 0.15% 1 0.17% ANTERIOR SUTURES SUSPICIOUS 1 0.15% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.29% POSTERIOR SUTURES INTERMEDIATE* 2 0.29% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.15% 1 0.17% NUCLEUS (SIZE UNSPECIFIED)* 1 0.15% NUCLEUS PUNCTATE* 1 0.15% NUCLEUS INTERMEDIATE* 1 0.15% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 0.58% 8 1.34% CAPSULAR PUNCTATE 20.34% CAPSULAR SIGN. UNKNOWN 1 0.15% 2 0.34% POSTERIOR CAPSULE 1 0.15% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.15%

BOXER

1991 - 1999 2000-2007 GENERALIZED CATARACT* 1 0.15% 4 0.67% SUBLUXATION/LUXATION 1 0.15% 1 0.17% VITREOUS PERSISTENT HYALOID ARTERY 1 0.15% 1 0.17% PHPV/PTVL 10.17% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.15% 5 0.84% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.15% 1 0.17% RETINAL ATROPHY--SUSPICIOUS 10.17% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.29% 2 0.34% RETINAL DETACHMENT 1 0.15% RETINAL HEMORRHAGE 1 0.15% OPTIC NERVE COLOBOMA 2 0.29% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.15% MICROPAPILLA 10.17% OTHER OTHER, INHERITED 6 0.87% 4 0.67% OTHER, NON -INHERITED 4 0.58% 35 5.87% NORMAL NORMAL 522 75.76% 426 71.48%

BOYKIN SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

C. Persistent pupillary Not defined 2 Breeder option membranes - iris to iris

D. Cataract Not defined 1 NO

E. Persistent hyaloid Not defined 2 Breeder option artery

F. Retinal dysplasia Not defined 1 Breeder option - folds

G. Retinal atrophy Not defined 1 NO - generalized

H. Choroidal hypoplasia Simple recessive 3,4,5 NO

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Persistent hyaloid artery (PHA)

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinal atrophy-generalized

H. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly"

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Boykin Spaniel breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

4. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

5. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BOYKIN SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF BOYKIN SPANIEL EXAMINED 388 1159

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.09% EYELIDS DISTICHIASIS 51 13.14% 139 11.99% EURY/MACRO BLEPHARON 1 0.26% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.26% GLAND PROLAPSE 1 0.26% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 13 3.35% 21 1.81% DYSTROPHY--ENDOTHELIAL 1 0.26% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.26% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.26% UVEA IRIS / CILIARY BODY CYSTS 1 0.26% IRIS COLOBOMA 1 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 1.29% 15 1.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.26% 3 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.52% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 29 7.47% 49 4.23% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.26% ANTERIOR CORTEX PUNCTATE* 5 1.29% 3 0.26% ANTERIOR CORTEX INTERMEDIATE* 3 0.77% 7 0.60% ANTERIOR CORTEX DIFFUSE* 1 0.26% 2 0.17% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.52% 20 1.73% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.09% POSTERIOR CORTEX PUNCTATE* 11 2.84% 11 0.95% POSTERIOR CORTEX INTERMEDIATE* 4 1.03% 17 1.47% POSTERIOR CORTEX DIFFUSE* 1 0.26% 1 0.09% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 1.03% 4 0.35% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.26% EQUATORIAL CORTEX PUNCTATE* 3 0.77% 1 0.09% EQUATORIAL CORTEX INTERMEDIATE* 2 0.52% 2 0.17% EQUATORIAL CORTEX DIFFUSE* 10.09% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.09% ANTERIOR SUTURES PUNCTATE* 30.26% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 40.35% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.26% POSTERIOR SUTURES PUNCTATE* 4 1.03% 5 0.43% POSTERIOR SUTURES INTERMEDIATE* 1 0.26% 1 0.09% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.26% 8 0.69% NUCLEUS (SIZE UNSPECIFIED)* 1 0.26% NUCLEUS PUNCTATE* 5 1.29% 2 0.17% NUCLEUS INTERMEDIATE* 1 0.26% 5 0.43%

BOYKIN SPANIEL

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 10.09% NUCLEUS PUNCTATE SIGN. UNKNOWN 8 2.06% 9 0.78% ANTERIOR CAPSULE 2 0.52% CAPSULAR PUNCTATE 30.26% CAPSULAR INTERMEDIATE 20.17% CAPSULAR SIGN. UNKNOWN 2 0.52% 24 2.07% POSTERIOR CAPSULE 1 0.26% GENERALIZED CATARACT* 1 0.26% 2 0.17% VITREOUS PERSISTENT HYALOID ARTERY 1 0.26% 8 0.69% PHPV/PTVL 20.17% DEGENERATION (NO FURTHER SPECIFICATION) 20.17% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.77% 5 0.43% RETINAL ATROPHY--SUSPICIOUS 2 0.52% 5 0.43% RETINAL DYSPLASIA FOCAL/FOLDS 16 4.12% 28 2.42% RETINAL DYSPLASIA GEOGRAPHIC 40.35% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.09% CHOROIDAL HYPOPLASIA 18 1.55% RETINAL DETACHMENT 1 0.26% 1 0.09% RETINAL HEMORRHAGE 1 0.26% 1 0.09% OPTIC NERVE COLOBOMA 5 1.29% 4 0.35% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.77% OPTIC NERVE HYPOPLASIA 10.09% MICROPAPILLA 1 0.26% OTHER OTHER, INHERITED 2 0.52% 5 0.43% OTHER, NON -INHERITED 4 1.03% 59 5.09% NORMAL NORMAL 271 69.85% 902 77.83%

BRACCO ITALIANO

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

BRACCO ITALIANO

1991 - 1999 2000-2007 TOTAL NUMBER OF BRACCO ITALIANO EXAMINED 33

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 26.06% DISTICHIASIS 26.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 515.15% ANTERIOR CORTEX PUNCTATE* 26.06% ANTERIOR CORTEX INTERMEDIATE* 13.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 13.03% POSTERIOR CORTEX PUNCTATE* 26.06% NUCLEUS INTERMEDIATE* 26.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 13.03% CAPSULAR SIGN. UNKNOWN 13.03% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 515.15% OTHER OTHER, NON -INHERITED 26.06% NORMAL NORMAL 21 63.64%

BRIARD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

B. Persistent pupillary Not defined 16 Breeder option membranes - iris to iris

C. Cataract Not defined 14 NO

D. Central progressive Autosomal 1, 2,11 NO retinal atrophy recessive

E. Retinal Dystrophy Presumed 1,3-10,12,13,15 NO formerly called autosomal Congenital stationary recessive night blindness (csnb)

F. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Central progressive retinal atrophy (CPRA)

CPRA is characterized by the appearance of brown spots and patches primarily in the tapetal fundus and retinal degeneration. These areas are created by an accumulation of autofluorescent lipopigment within the retinal pigment epithelium cells. These changes are consistent with retinal changes observed in Vitamin E deficiency. Neurologic signs including ataxia and proprioceptive deficits have also been identified in affected dogs.

In the Briard, the early lesions are seen first in the temporal tapetal fundus and progress to affect the posterior pole region at a later time; the eye lesions may initially be asymmetrical. The age of onset varies from young adults (> 17 months) to older animals. Many dogs have been found to be normal on repeated examinations before 5 years of age, only to develop clinical signs at a later age. The disease is inherited as a simple recessive trait. The ERG has not been reported to be a useful test for the early diagnosis of the disease.

In the Briard, retinal lesions of CPRA have been related to an underlying abnormal metabolism of Vitamin E resulting in a systemic deficiency.

E. Retinal Dystrophy formerly Congenital stationary night blindness (CSNB)

A non-progressive retinal function defect characterized primarily by night blindness; day vision is normal to severely compromised. CSNB is an autosomal recessive trait caused by a mutation in the RPE65 gene. The condition is detected by 5-6 weeks of age, after the postnatal maturation of the retina is completed. Nystagmus is present in some dogs, particularly in those having night blindness and severely compromised day vision. Ophthalmoscopic examination shows no abnormalities. Abnormalities in serum lipids (mild hypercholesterolemia) and elevated arachidonic acid have been noted in some animals. The ERG results are specific and diagnostic for the disorder. ERG testing is essential to distinguish this disorder from more central visual pathway defects which may appear clinically similar.

The gene mutation RPE65 has been identified. This is the same mutation as causes Leber’s congenital amaurosis, also sometimes called juvenile retinitis pigmentosa(RP), in humans.

The contact for testing is: Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

For DNA testing also contact: Animal Health Trust (UK): website: www.aht.org.uk.

F. Retinal atrophy-generalized

In the Briard, early fundus abnormalities usually appear after 4 years of age. The electroretinogram (ERG) shows marked functional abnormalities indicative of a progressive rod-cone degeneration. The age for early diagnosis by ERG has not been established but should be possible in dogs over 2 years of age.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Bedford P: Retinal pigment epithelial dystrophy (CPRA): A study of the disease in the Briard. J Sm Anim Pract 25:129, 1984.

3. Riis R and Aguirre G: The Briard problem. Proc Amer Coll Vet Ophthalmol, 1983.

4. Riis R and Siakotos A: Inherited lipid retinopathy in a dog breed. Suppl Invest Ophthalmol Vis Sci 30:308, 1989.

5. Narfstrom K, Wrigstad A, Nilson SE: The Briard dog: A new animal model of congenital stationary night blindness. Br J Ophthalmol 73:750, 1989.

6. Narfstrom K, et al: Hereditary retinal dystrophy in the Briard dog: Clinical and hereditary characteristics. Prog Vet Comp Ophthalmol 4:85, 1994.

7. Wrigstad A, Narfstrom K, Nilsson SE: Slowly progressive changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study. Prac Ophthalmol 87:337, 1994.

8. Lightfoot RM, Cabral L, Gooch L, et al: Retinal pigment epithelial dystrophy in Briard dogs. Res Vet Sci 60:17, 1996.

9. Acland G, Ray K, Aguirre G: Genetic tests for PRA in Portuguese Water Dogs and for Congenital Stationary Night Blindness in Briards. Proc American College of Veterinary Ophthalmologists 28:63, 1998.

10. Aguirre G, Acland G: Use and misuse of electroretinography in the diagnosis of inherited retinal diseases of dogs. Proceedings American College of Veterinary Ophthalmologists 27:37, 1997.

11. McLellan GJ, Watson P, et al: Vitamin E deficiency in canine retinal pigment epithelial dystrophy (central progressive retinal atrophy). Proceedings American College of Veterinary Ophthalmologists 27:38, 1997.

12. Veske, A., et al: Retinal Dystrophy of Swedish Briard/Briard-Beagle Dog is due to a 4-bp deletion in RPE65. Genomics 57, 1999.

13. Narfstrom, K: Retinal dystrophy or ‘congenital stationary night blindness’ in the Briard dog. Vet Ophthalmology 2:1, 1999.

14. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

15. Aguirre,G.A., et al: Congenital stationary night blindness in the dog: common mutation in the in the RPE65 gene indicates founder effect. Molecular Vision 4:23, 1998.

16. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

BRIARD

1991 - 1999 2000-2007 TOTAL NUMBER OF BRIARD EXAMINED 829 681

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 1 0.12% EYELIDS ENTROPION 1 0.12% DISTICHIASIS 40.59% ECTOPIC CILIA 1 0.12% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.15% GLAND PROLAPSE 1 0.12% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.24% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 7 0.84% 12 1.76% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.12% UVEA IRIS / CILIARY BODY CYSTS 2 0.24% 4 0.59% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 6 0.72% 8 1.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.29% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.29% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 9 1.09% 14 2.06% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.24% ANTERIOR CORTEX PUNCTATE* 20.29% ANTERIOR CORTEX INTERMEDIATE* 2 0.24% 3 0.44% ANTERIOR CORTEX SUSPICIOUS 1 0.12% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 0.48% 5 0.73% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.48% POSTERIOR CORTEX PUNCTATE* 10.15% POSTERIOR CORTEX INTERMEDIATE* 1 0.12% 6 0.88% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.24% 1 0.15% EQUATORIAL CORTEX INTERMEDIATE* 10.15% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.12% 2 0.29% POSTERIOR SUTURES PUNCTATE* 10.15% POSTERIOR SUTURES INTERMEDIATE* 10.15% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.24% 3 0.44% NUCLEUS (SIZE UNSPECIFIED)* 1 0.12% NUCLEUS PUNCTATE* 40.59% NUCLEUS INTERMEDIATE* 10.15% NUCLEUS SUSPICIOUS 1 0.12% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.60% 1 0.15% ANTERIOR CAPSULE SUSPICIOUS 1 0.12% CAPSULAR PUNCTATE 20.29% CAPSULAR INTERMEDIATE 20.29% CAPSULAR SIGN. UNKNOWN 13 1.91% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.24%

BRIARD

1991 - 1999 2000-2007 POSTERIOR CAPSULE SUSPICIOUS 1 0.12% GENERALIZED CATARACT* 2 0.24% VITREOUS PERSISTENT HYALOID ARTERY 10.15% PHPV/PTVL 10.15% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.12% DEGENERATION SYNERESIS 10.15% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.12% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.36% 1 0.15% RETINAL DYSPLASIA GEOGRAPHIC 10.15% STAPHYLOMA / COLOBOMA 1 0.12% RETINAL HEMORRHAGE 1 0.12% OPTIC NERVE COLOBOMA 2 0.24% 1 0.15% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.12% OTHER OTHER, INHERITED 14 1.69% 1 0.15% OTHER, NON -INHERITED 6 0.72% 44 6.46% NORMAL NORMAL 764 92.16% 628 92.22%

BRITTANY

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 2 Breeder option

B. Persistent pupillary Not defined 3 Breeder option membrane - iris to iris

C. Lens luxation Not defined 1 NO

D. Cataract Not defined 1 NO

E. Vitreous Not defined 4 Breeder option degeneration

F. Retinal dysplasia Not defined 4 Breeder option - folds

G. Retinal dysplasia Not defined 5 NO - geographic

Description and Comments

A. Distichiasis

B. Persistent pupillary membrane (PPM)

C. Lens luxation

Partial (subluxated) or complete displacement of the lens from the normal anatomic site behind the pupil. Lens luxation not associated with trauma or inflammation is presumed to be inherited. Lens luxation may result in elevated intraocular pressure (glaucoma) causing vision impairment or blindness.

D. Cataract

The exact frequency and significance of cataracts in the breed is not known, although it is probably low.

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinal dysplasia- geographic

References

There are no references providing detailed descriptions of hereditary conditions of the Brittany spaniel breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BRITTANY

1991 - 1999 2000-2007 TOTAL NUMBER OF BRITTANY EXAMINED 676 801

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 22 3.25% 14 1.75% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.15% 2 0.25% DYSTROPHY--ENDOTHELIAL 2 0.30% 1 0.12% UVEA IRIS / CILIARY BODY CYSTS 10.12% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.59% 15 1.87% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 20.25% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 29 4.29% 39 4.87% ANTERIOR CORTEX PUNCTATE* 5 0.74% 3 0.37% ANTERIOR CORTEX INTERMEDIATE* 4 0.59% 5 0.62% ANTERIOR CORTEX DIFFUSE* 1 0.15% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 0.59% 20 2.50% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.59% POSTERIOR CORTEX PUNCTATE* 2 0.30% 13 1.62% POSTERIOR CORTEX INTERMEDIATE* 9 1.33% 13 1.62% POSTERIOR CORTEX DIFFUSE* 1 0.15% POSTERIOR CORTEX SUSPICIOUS 1 0.15% POST. CORTEX PUNCT. SIGN. UNKNOWN 6 0.89% 9 1.12% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.15% EQUATORIAL CORTEX PUNCTATE* 1 0.15% EQUATORIAL CORTEX INTERMEDIATE* 4 0.59% 3 0.37% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.30% 3 0.37% ANTERIOR SUTURES PUNCTATE* 1 0.15% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.12% POSTERIOR SUTURES PUNCTATE* 1 0.15% 3 0.37% POSTERIOR SUTURES INTERMEDIATE* 2 0.30% 6 0.75% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.30% 8 1.00% NUCLEUS PUNCTATE* 1 0.15% NUCLEUS INTERMEDIATE* 1 0.15% 2 0.25% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.30% 1 0.12% CAPSULAR PUNCTATE 70.87% CAPSULAR INTERMEDIATE 40.50% CAPSULAR SIGN. UNKNOWN 60.75% POSTERIOR CAPSULE 4 0.59% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.15% POSTERIOR CAPSULE SUSPICIOUS 1 0.15% GENERALIZED CATARACT* 2 0.30% SUBLUXATION/LUXATION 20.25% VITREOUS PERSISTENT HYALOID ARTERY 1 0.15% PHPV/PTVL 10.12% DEGENERATION (NO FURTHER SPECIFICATION) 50.62% DEGENERATION SYNERESIS 10.12%

BRITTANY

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.30% 3 0.37% RETINAL ATROPHY--SUSPICIOUS 4 0.59% 8 1.00% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.15% 4 0.50% RETINAL DYSPLASIA GEOGRAPHIC 60.75% RETINAL DETACHMENT 1 0.15% OPTIC NERVE COLOBOMA 10.12% OPTIC NERVE HYPOPLASIA 10.12% MICROPAPILLA 10.12% OTHER OTHER, INHERITED 5 0.74% 3 0.37% OTHER, NON -INHERITED 4 0.59% 47 5.87% NORMAL NORMAL 592 87.57% 691 86.27%

BRUSSELS GRIFFON

DISORDER INHERITANCE REFERENCES BREEDING ADVICE

A. Exposure keratopathy Not defined 1 Breeder option syndrome/ macroblepharon

B. Distichiasis Not defined 2,3 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 1,3 Breeder option - all other forms Not defined 3 NO

D. Cataract Not defined 1 NO

E. Lens luxation Not defined 2,3 NO

F. Persistent hyaloids Not defined 3 Breeder option artery

G. Vitreous degeneration - anterior chamber Not defined 1,4,5 Breeder option - syneresis Not defined 1,4,5 Breeder option

H. Retinal atrophy Not defined 2,3 NO - generalized

I. Retinal dysplasia Not defined 5 NO - geographic

J. Optic nerve Not defined 1 NO coloboma

Description and Comments

A. Exposure keratopathy syndrome/macroblepharon

B. Distichiasis

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

E. Lens luxation

F. Persistent hyaloid artery (PHA)

G. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

H. Retinal atrophy-generalized

I. Retinal dysplasia- geographic

J. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Brussels Griffon breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

5. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

BRUSSELS GRIFFON

1991 - 1999 2000-2007 TOTAL NUMBER OF BRUSSELS GRIFFON EXAMINED 362 466

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 2 0.55% 1 0.21% DISTICHIASIS 6 1.66% 8 1.72% ECTOPIC CILIA 1 0.28% 3 0.64% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.28% 7 1.50% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.21% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 8 2.21% 2 0.43% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 10 2.76% 26 5.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.21% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.43% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.21% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 47 12.98% 70 15.02% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.55% ANTERIOR CORTEX PUNCTATE* 3 0.83% 9 1.93% ANTERIOR CORTEX INTERMEDIATE* 27 7.46% 34 7.30% ANTERIOR CORTEX DIFFUSE* 4 1.10% ANTERIOR CORTEX SUSPICIOUS 2 0.55% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11 3.04% 5 1.07% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.55% POSTERIOR CORTEX PUNCTATE* 5 1.38% 2 0.43% POSTERIOR CORTEX INTERMEDIATE* 7 1.93% 13 2.79% POSTERIOR CORTEX DIFFUSE* 4 1.10% POSTERIOR CORTEX SUSPICIOUS 1 0.28% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.55% 2 0.43% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.55% EQUATORIAL CORTEX PUNCTATE* 1 0.28% 1 0.21% EQUATORIAL CORTEX INTERMEDIATE* 10 2.76% 25 5.36% EQUATORIAL CORTEX DIFFUSE* 3 0.83% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.28% 6 1.29% ANTERIOR SUTURES INTERMEDIATE* 1 0.28% 3 0.64% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.28% POSTERIOR SUTURES INTERMEDIATE* 30.64% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.21% NUCLEUS INTERMEDIATE* 30.64% ANTERIOR CAPSULE 1 0.28% ANTERIOR CAPSULE SUSPICIOUS 1 0.28% CAPSULAR PUNCTATE 40.86% CAPSULAR INTERMEDIATE 20.43% CAPSULAR SIGN. UNKNOWN 3 0.83% 3 0.64% GENERALIZED CATARACT* 5 1.38% 6 1.29% SUBLUXATION/LUXATION 3 0.83% 4 0.86% VITREOUS PERSISTENT HYALOID ARTERY 81.72%

BRUSSELS GRIFFON

1991 - 1999 2000-2007 DEGENERATION (NO FURTHER SPECIFICATION) 53 14.64% 51 10.94% DEGENERATION ANTERIOR CHAMBER 46 9.87% DEGENERATION SYNERESIS 31 6.65% FUNDUS RETINAL ATROPHY--GENERALIZED 4 1.10% 6 1.29% RETINAL ATROPHY--SUSPICIOUS 2 0.55% 4 0.86% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.55% 3 0.64% RETINAL DYSPLASIA GEOGRAPHIC 3 0.83% 5 1.07% STAPHYLOMA / COLOBOMA 10.21% RETINAL DETACHMENT 1 0.28% 1 0.21% OPTIC NERVE COLOBOMA 9 2.49% 6 1.29% OTHER OTHER, INHERITED 7 1.93% 5 1.07% OTHER, NON -INHERITED 1 0.28% 21 4.51% NORMAL NORMAL 229 63.26% 298 63.95%

BULL TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes iris to iris Not defined 1,2 Breeder option iris to cornea Not defined 2 NO all other forms Not defined 2 NO

B. Lens luxation Not defined 3 NO

C. Cataract Not defined 1 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Lens luxation

C. Cataract

References

There are no references providing detailed descriptions of hereditary conditions of the Bull terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

BULL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF BULL TERRIER EXAMINED 94 72

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 1.06% EYELIDS ENTROPION 22.78% DISTICHIASIS 1 1.06% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 11.39% DYSTROPHY--ENDOTHELIAL 5 5.32% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 5.32% 2 2.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 2.13% 2 2.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 6 6.38% 3 4.17% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 1.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 5 5.32% 3 4.17% ANTERIOR CORTEX PUNCTATE* 2 2.13% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11.39% POSTERIOR CORTEX PUNCTATE* 1 1.06% POSTERIOR CORTEX INTERMEDIATE* 1 1.06% POSTERIOR CORTEX DIFFUSE* 22.78% EQUATORIAL CORTEX PUNCTATE* 2 2.13% EQUATORIAL CORTEX INTERMEDIATE* 1 1.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 11.39% ANTERIOR SUTURES PUNCTATE* 11.39% ANTERIOR SUTURES INTERMEDIATE* 1 1.06% POSTERIOR SUTURES INTERMEDIATE* 1 1.06% NUCLEUS PUNCTATE* 1 1.06% CAPSULAR PUNCTATE 11.39% CAPSULAR SIGN. UNKNOWN 11.39% SUBLUXATION/LUXATION 3 3.19% 4 5.56% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 1.06% 1 1.39% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 11.39% RETINAL DETACHMENT 1 1.06% 1 1.39% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 3.19% MICROPAPILLA 1 1.06% OTHER OTHER, INHERITED 3 3.19% OTHER, NON -INHERITED 811.11% NORMAL NORMAL 73 77.66% 57 79.17%

BULLDOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectopic cilia Not defined 1 Breeder option

C. Ectropion Not defined 1,2 Breeder option

D. Entropion Not defined 1,7 Breeder option

E. Eury/Macroblepharon Not defined 8 Breeder option

F. Prolapsed gland Not defined 1,3,4 Breeder option of third eyelid

G. Chronic superficial Not defined 8 NO keratitis/Pannus

H. Keratoconjunctivitis Not defined 1,5,6 NO sicca/dry eye

I. Cataract Not defined 1 NO

J. Retinal dysplasia- Not defined 1 Breeder option -folds

Description and Comments

A. Distichiasis

In the Bulldog, these abnormal eyelashes may be associated with significant clinical disease and breeding of affected animals should be discouraged.

B. Ectopic cilia

Hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs and cause discomfort and corneal disease.

C. Ectropion

A conformational defect resulting in eversion of the eyelids which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

In the Bulldog, ectropion is associated with an exceptionally large palpebral fissure and laxity of the canthal structures. Central lower lid ectropion is often associated with entropion of the adjacent lid. This causes severe ocular irritation.

D. Entropion

E. Eury/Macroblepharon

F. Prolapse of the gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated and severe chronic inflammation or keratoconjunctivitis sicca/dry eye syndrome may ensue. Commonly referred to as "cherry eye".

G. Chronic Superficial Keratitis/Pannus

H. Keratoconjunctivitis sicca/ dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

I. Cataract

J. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Priester WA: Congenital ocular defects in cattle, horses, cats and dogs. J Am Vet Med Assoc 160:1504, 1972.

3. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39, 1976.

4. Morgan RV, et al: Prolapse of the gland of the third eyelid in dogs: A retrospective study of 89 cases (1980-1990). J Am Anim Hosp Assoc 29:56, 1993.

5. Kaswan RL et al: Keratoconjunctivitis sicca: Histopathologic study of nictitating membrane and lacrimal glands from 28 dogs. Amer J Vet Res 45:112, 1984.

6. Sansom J, Barnett KC: Keratoconjunctivitis sicca in the dog: A review of two hundred cases. J Small Anim Prac 26:121, 1985.

7. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report 2003-2004.

BULLDOG (ENGLISH & AMERICAN)

1991 - 1999 2000-2007 TOTAL NUMBER OF BULLDOG (ENGLISH & AMERICAN) 209 415 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.48% DRY EYE 1 0.48% EYELIDS ENTROPION 36 17.22% 58 13.98% ECTROPION 11 5.26% 28 6.75% DISTICHIASIS 47 22.49% 62 14.94% ECTOPIC CILIA 3 1.44% 2 0.48% EURY/MACRO BLEPHARON 3 1.44% 9 2.17% THIRD EYELID GLAND PROLAPSE 3 1.44% 6 1.45% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.48% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 1.44% 2 0.48% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 1.44% 6 1.45% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 4 1.91% 4 0.96% UVEA IRIS / CILIARY BODY CYSTS 20.48% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.48% 4 0.96% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.24% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.48% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 8 3.83% 6 1.45% ANTERIOR CORTEX PUNCTATE* 1 0.48% 1 0.24% ANTERIOR CORTEX INTERMEDIATE* 30.72% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.48% 1 0.24% POSTERIOR CORTEX PUNCTATE* 1 0.48% 1 0.24% POSTERIOR CORTEX INTERMEDIATE* 1 0.48% 1 0.24% POSTERIOR CORTEX DIFFUSE* 1 0.48% EQUATORIAL CORTEX INTERMEDIATE* 1 0.48% 2 0.48% EQUATORIAL CORTEX DIFFUSE* 1 0.48% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20.48% ANTERIOR SUTURES INTERMEDIATE* 1 0.48% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.48% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 1.91% 2 0.48% NUCLEUS INTERMEDIATE* 1 0.48% 1 0.24% NUCLEUS DIFFUSE* 1 0.48% CAPSULAR INTERMEDIATE 10.24% CAPSULAR SIGN. UNKNOWN 1 0.48% 3 0.72% GENERALIZED CATARACT* 1 0.48% 1 0.24% SUBLUXATION/LUXATION 10.24% VITREOUS PERSISTENT HYALOID ARTERY 10.24% DEGENERATION (NO FURTHER SPECIFICATION) 20.48%

BULLDOG (ENGLISH & AMERICAN)

1991 - 1999 2000-2007 FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 15 7.18% 30 7.23% RETINAL DYSPLASIA GEOGRAPHIC 1 0.48% 2 0.48% RETINAL DYSPLASIA GENERALIZED/DETACHED 20.48% OTHER OTHER, INHERITED 7 3.35% 3 0.72% OTHER, NON -INHERITED 3 1.44% 24 5.78% NORMAL NORMAL 108 51.67% 268 64.58%

BULLMASTIFF

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1,2 Breeder option

C. Ectropion Not defined 4 Breeder option

D. Eury/Macroblepharon Not defined 3,4 Breeder option

E. Glaucoma Not defined 1 NO

F. Persistent pupillary membranes - iris to iris Not defined 1,4 Breeder option - all other forms Not defined 4 NO

G. Cataract Not defined 1 NO

H. Retinal atrophy Autosomal * - generalized recessive

I. Retinal dysplasia Not defined 1 Breeder option - folds

J. Multifocal retinopathy Autosomal 5 NO - cmr1 recessive

K. Optic nerve Not defined 3 NO hypoplasia

L. Micropapilla Not defined 3 Breeder option

* A mutation-based DNA test is available for dominant PRA.

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong

recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

In this breed, the palpebral fissures may become vertical and/or shaped like a "pagoda". Entropion in the Bullmastiff is severe and may require multiple surgical corrections.

C. Ectropion

A conformational defect resulting in eversion (rolling-out) of the eyelids, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

D. Eury/Macroblepharon

E. Glaucoma

F. Persistent pupillary membranes (PPM)

G. Cataract

H Retinal atrophy-generalized

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

J. Multifocal retinopathy

Canine Multi-focal Retinopathy (CMR) is a recently identified recessively inherited eye disease. The condition includes numerous distinct (i.e. multi-focal), roughly circular patches of elevated retina with accumulation of material that produces gray-tan-pink colored lesions. These lesions, looking somewhat like blisters, vary in location and size, although typically they are present in both eyes of the affected dog. Discrete areas of tapetal hyper-reflectivity might also be seen.

The disease generally develops in young dogs before 4 months and might progress slowly, might appear to heal, or might even appear and then go away again. Most dogs exhibit no noticeable problem with vision despite their abnormal appearing retinas.

For DNA testing contact Optigen®: canine multi-focal retinopathy - cmr test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

K. Optic nerve hypoplasia

L. Micropapilla

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Bullmastiff breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991- 1998.

2. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. Guziewicz KE, Zangerl B, Lindauer SJ, et al. Bestrophin gene mutations cause canine multifocal rertinopathy: A novel animal model for best disease. Investigative Ophthal & Visual Science,48:1959-1967, 2007.

BULLMASTIFF

1991 - 1999 2000-2007 TOTAL NUMBER OF BULLMASTIFF EXAMINED 397 465

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.50% 2 0.43% EYELIDS ENTROPION 28 7.05% 29 6.24% ECTROPION 3 0.76% 11 2.37% DISTICHIASIS 11 2.77% 14 3.01% EURY/MACRO BLEPHARON 11 2.37% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.22% GLAND PROLAPSE 1 0.25% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.25% DYSTROPHY--ENDOTHELIAL 1 0.25% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 20.43% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.22% UVEA IRIS / CILIARY BODY CYSTS 1 0.25% 2 0.43% IRIS COLOBOMA 20.43% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 17 4.28% 7 1.51% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 7 1.76% 2 0.43% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 12 3.02% 6 1.29% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.22% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 15 3.78% 14 3.01% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.25% ANTERIOR CORTEX PUNCTATE* 2 0.50% 2 0.43% ANTERIOR CORTEX INTERMEDIATE* 3 0.76% 3 0.65% ANTERIOR CORTEX DIFFUSE* 2 0.50% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 1.51% 3 0.65% POSTERIOR CORTEX PUNCTATE* 20.43% POSTERIOR CORTEX INTERMEDIATE* 4 1.01% 4 0.86% EQUATORIAL CORTEX PUNCTATE* 10.22% EQUATORIAL CORTEX INTERMEDIATE* 3 0.76% 2 0.43% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 40.86% NUCLEUS INTERMEDIATE* 1 0.25% 2 0.43% NUCLEUS DIFFUSE* 10.22% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.25% 2 0.43% CAPSULAR PUNCTATE 20.43% CAPSULAR SIGN. UNKNOWN 1 0.25% 11 2.37% GENERALIZED CATARACT* 1 0.25% 1 0.22% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 0.25% FUNDUS RETINAL ATROPHY--GENERALIZED 10.22% RETINAL ATROPHY--SUSPICIOUS 10.22%

BULLMASTIFF

1991 - 1999 2000-2007 RETINAL DYSPLASIA FOCAL/FOLDS 27 6.80% 23 4.95% RETINAL DYSPLASIA GEOGRAPHIC 1 0.25% 1 0.22% OPTIC NERVE COLOBOMA 1 0.25% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 6 1.51% MICROPAPILLA 10.22% OTHER OTHER, INHERITED 4 1.01% 8 1.72% OTHER, NON -INHERITED 2 0.50% 35 7.53% NORMAL NORMAL 288 72.54% 356 76.56%

CAIRN TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Ocular melanosis Not defined 1-5,8 NO with and without glaucoma

B. Persistent pupillary Not defined 6,7 Breeder option membranes - iris to iris

C. Cataract Not defined 1 NO

D. Persistent hyaloid Not defined 7 Breeder option artery

Description and Comments

A. Ocular melanosis with and without glaucoma (previously Ocular melanosis with secondary glaucoma, previously Pigmentary glaucoma)

A proliferation of melanocytes within the uveal tract associated with an elevation in intraocular pressure. Obstruction of the aqueous outflow pathways occurs resulting in glaucoma. This condition has been identified most commonly in the Cairn terrier. The condition is familial but the exact mode of inheritance is unknown (pedigree anaylsis has ruled out a sex-linked disorder). In the Cairn terrier, the disease is very slowly progressive and blindness ultimately results. Some dogs develop episodes of anterior uveitis associated with the shedding of large amounts of pigment from the iris surface. There is a long pre- glaucomatous phase of the disease in which diagnosis of the condition is possible. Age of onset varies from 2-14 years.

Current investigation on the condition the condition is being done by: Dr. Petersen-Jones, Department of Small Animal Clinical Sciences, Michigan State University, D-208 Veterinary Medical Center, East Lansing, MI 48824-1314. Tel: 517-353-3278. E-mail [email protected].

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Persistent hyaloid artery (PHA)

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Covitz D, Barthold S, Dithers R, Riis R: "Pigmentary glaucoma" in the Cairn terrier. Trans Am Coll Vet Ophthalmol, 15: 245, 1984.

3. Petersen-Jones SM: Abnormal ocular pigment deposition associated with glaucoma in the Cairn terrier. J Small Anim Pract 32: 19, 1991.

4. Petersen-Jones SM, et al: Ocular melanosis in the Cairn Terrier: clinical description and investigation of mode of inheritance. Vet Ophthalmol 10:63-69, 2007.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

8. van de Sandt RR, Boeve MH, Stades FC, Kik MJ: Veterinary Ophthalmology 6: 273-278, 2003.

CAIRN TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF CAIRN TERRIER EXAMINED 629 1639

Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 10.06% GLAUCOMA 2 0.32% EYELIDS DISTICHIASIS 3 0.48% 4 0.24% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.06% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.32% 9 0.55% DYSTROPHY--ENDOTHELIAL 3 0.48% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.16% 3 0.18% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 1.91% 124 7.57% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 50.31% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.48% 1 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.16% 1 0.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 30 4.77% 73 4.45% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.48% ANTERIOR CORTEX PUNCTATE* 2 0.32% 7 0.43% ANTERIOR CORTEX INTERMEDIATE* 3 0.48% 11 0.67% ANTERIOR CORTEX DIFFUSE* 10.06% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 0.79% 31 1.89% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.06% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.32% POSTERIOR CORTEX PUNCTATE* 1 0.16% 9 0.55% POSTERIOR CORTEX INTERMEDIATE* 9 1.43% 23 1.40% POSTERIOR CORTEX DIFFUSE* 1 0.16% 2 0.12% POSTERIOR CORTEX SUSPICIOUS 1 0.16% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.32% 10 0.61% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.16% EQUATORIAL CORTEX PUNCTATE* 1 0.16% 7 0.43% EQUATORIAL CORTEX INTERMEDIATE* 2 0.32% 17 1.04% EQUATORIAL CORTEX DIFFUSE* 20.12% EQUATORIAL CORTEX SUSPICIOUS 1 0.16% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 15 0.92% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.06% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.16% 1 0.06% POSTERIOR SUTURES PUNCTATE* 1 0.16% 1 0.06% POSTERIOR SUTURES INTERMEDIATE* 5 0.79% 1 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.32% 5 0.31% NUCLEUS INTERMEDIATE* 10.06% NUCLEUS DIFFUSE* 10.06% NUCLEUS SUSPICIOUS 1 0.16% ANTERIOR CAPSULE 1 0.16%

CAIRN TERRIER

1991 - 1999 2000-2007 CAPSULAR PUNCTATE 30.18% CAPSULAR INTERMEDIATE 10.06% CAPSULAR SIGN. UNKNOWN 1 0.16% 17 1.04% POSTERIOR CAPSULE 3 0.48% GENERALIZED CATARACT* 7 1.11% 9 0.55% SUBLUXATION/LUXATION 10.06% VITREOUS PERSISTENT HYALOID ARTERY 5 0.79% 17 1.04% PHPV/PTVL 2 0.32% 2 0.12% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.32% 8 0.49% DEGENERATION ANTERIOR CHAMBER 20.12% DEGENERATION SYNERESIS 50.31% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.32% 2 0.12% RETINAL ATROPHY--SUSPICIOUS 7 1.11% 6 0.37% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.16% 6 0.37% RETINAL DYSPLASIA GEOGRAPHIC 2 0.32% 2 0.12% CHOROIDAL HYPOPLASIA 2 0.32% OPTIC NERVE COLOBOMA 6 0.95% 5 0.31% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.16% OPTIC NERVE HYPOPLASIA 50.31% MICROPAPILLA 10.06% OTHER OTHER, INHERITED 39 6.20% 45 2.75% OTHER, NON -INHERITED 3 0.48% 94 5.74% NORMAL NORMAL 502 79.81% 1328 81.03%

CANAAN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 3 Breeder option

B. Persistent pupillary Not defined 2 Breeder option membranes -iris to iris

C. Cataract Not defined 1,2 NO

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Cataract

References

There are no references providing detailed descriptions of hereditary conditions of the Canaan. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

CANAAN

1991 - 1999 2000-2007 TOTAL NUMBER OF CANAAN EXAMINED 50 291

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 2 4.00% 7 2.41% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 2.00% 1 0.34% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 6.00% 12 4.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.34% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 5 10.00% 17 5.84% ANTERIOR CORTEX DIFFUSE* 2 4.00% 1 0.34% ANT. CORTEX PUNCT. SIGN. UNKNOWN 20.69% POSTERIOR CORTEX PUNCTATE* 20.69% POSTERIOR CORTEX INTERMEDIATE* 41.37% POSTERIOR CORTEX DIFFUSE* 2 4.00% EQUATORIAL CORTEX PUNCTATE* 10.34% EQUATORIAL CORTEX DIFFUSE* 2 4.00% ANTERIOR SUTURES PUNCTATE* 10.34% ANTERIOR SUTURES INTERMEDIATE* 1 2.00% POSTERIOR SUTURES INTERMEDIATE* 1 2.00% POSTERIOR SUTURES DIFFUSE* 2 4.00% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.34% NUCLEUS PUNCTATE* 1 2.00% 2 0.69% NUCLEUS INTERMEDIATE* 3 6.00% 9 3.09% NUCLEUS DIFFUSE* 2 4.00% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 6.00% 3 1.03% CAPSULAR DIFFUSE 2 4.00% CAPSULAR SIGN. UNKNOWN 62.06% FUNDUS RETINAL ATROPHY--GENERALIZED 41.37% RETINAL ATROPHY--SUSPICIOUS 51.72% RETINAL DYSPLASIA FOCAL/FOLDS 20.69% CHOROIDAL HYPOPLASIA 10.34% OTHER OTHER, NON -INHERITED 16 5.50% NORMAL NORMAL 38 76.00% 234 80.41%

CARDIGAN WELSH CORGI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary Not defined 6,8 Breeder option membranes - iris to iris

C. Cataract Not defined 1,7 NO

D. Retinal atrophy - Presumed 1,4,5 NO Rod-cone dysplasia autosomal type 3 (rcd3) recessive

E. Central progressive Not defined 1,3 NO retinal atrophy

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin that may cause ocular irritation. Distichiasis may occur any time in the life of the dog. It is difficult to make a strong recommendation about breeding dogs with this entity. The hereditary basis is not known although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal atrophy- rod-cone dysplasia type 3 (rcd3)

PRA in the Cardigan Welsh Corgi is an autosomal recessive trait caused by a one-base-pair deletion in the gene encoding the alpha subunit of cyclic GMP phosphodiesterase (rcd3) PRA begins early in life with clinical signs of night blindness and lack rod ERG responses seen at 6-8 weeks of age. Dogs are completely blind by 2-3 years of age when ophthalmoscopic signs are first visible. Current carrier rate from samples submitted is approx. 8.5%.

For DNA testing contact Dr. Petersen-Jones, Department of Small Animal Clinical Sciences, Michigan State University, D-208 Veterinary Medical Center, East Lansing, MI 48824-1314. Tel: 517-353-3278. E-mail [email protected]. Instructions for submission of samples can be found at : http://www.cardigancorgis.com/PRAtest.htm.

For DNA testing also contact Optigen®: rcd3-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

E. Central Progressive Retinal Atrophy (CPRA)

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Keep JM: Clinical aspects of progressive retinal atrophy in the Cardigan Welsh Corgi. Aust Vet J 48:197, 1972.

3. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sc Comp Med 20:39, 1976.

4. Keep JM: Clinical aspects of progressive retinal atrophy in the Cardigan Welsh corgi. Austral Vet J 48:197, 1972.

5. Petersen-Jones SM, Entz DD, Sargan DR: cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci 40:1637-1644, 1999.

6. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

7. Petersen-Jones SM, Entz DD: An improved DNA-based test for detection of the codon 616 mutation in the alpha cyclic GMP phosphodiesterase gene that causes progressive retinal atrophy in the Cardigan Welsh Corgi. Vet Ophthalmol 5:103-106, 2002.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

CARDIGAN WELSH CORGI

1991 - 1999 2000-2007 TOTAL NUMBER OF CARDIGAN WELSH CORGI EXAMINED 1571 1085

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.06% 1 0.09% EYELIDS DISTICHIASIS 51 3.25% 49 4.52% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 8 0.51% 4 0.37% DYSTROPHY--ENDOTHELIAL 10.09% UVEA IRIS COLOBOMA 10.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 38 2.42% 44 4.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.06% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.19% 4 0.37% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.09% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 53 3.37% 27 2.49% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.19% ANTERIOR CORTEX PUNCTATE* 5 0.32% 3 0.28% ANTERIOR CORTEX INTERMEDIATE* 19 1.21% 7 0.65% ANTERIOR CORTEX DIFFUSE* 1 0.06% ANT. CORTEX PUNCT. SIGN. UNKNOWN 22 1.40% 10 0.92% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.25% POSTERIOR CORTEX PUNCTATE* 7 0.45% 1 0.09% POSTERIOR CORTEX INTERMEDIATE* 8 0.51% 7 0.65% POSTERIOR CORTEX DIFFUSE* 1 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.25% 2 0.18% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.13% EQUATORIAL CORTEX PUNCTATE* 3 0.19% 2 0.18% EQUATORIAL CORTEX INTERMEDIATE* 7 0.45% 5 0.46% EQUATORIAL CORTEX DIFFUSE* 1 0.06% EQUATORIAL CORTEX SUSPICIOUS 1 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.32% 7 0.65% ANTERIOR SUTURES PUNCTATE* 2 0.13% ANTERIOR SUTURES INTERMEDIATE* 1 0.06% 1 0.09% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.19% 2 0.18% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.13% POSTERIOR SUTURES PUNCTATE* 10.09% POSTERIOR SUTURES INTERMEDIATE* 1 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.06% 6 0.55% NUCLEUS (SIZE UNSPECIFIED)* 3 0.19% NUCLEUS PUNCTATE* 1 0.06% 1 0.09% NUCLEUS INTERMEDIATE* 3 0.19% 3 0.28% NUCLEUS DIFFUSE* 1 0.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 9 0.57% 8 0.74% ANTERIOR CAPSULE 1 0.06% CAPSULAR INTERMEDIATE 20.18% CAPSULAR SIGN. UNKNOWN 1 0.06% 4 0.37%

CARDIGAN WELSH CORGI

1991 - 1999 2000-2007 POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.13% GENERALIZED CATARACT* 2 0.13% 1 0.09% VITREOUS PERSISTENT HYALOID ARTERY 4 0.25% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.19% DEGENERATION ANTERIOR CHAMBER 10.09% FUNDUS RETINAL ATROPHY--GENERALIZED 6 0.38% 1 0.09% RETINAL ATROPHY--SUSPICIOUS 2 0.13% RETINAL DYSPLASIA FOCAL/FOLDS 13 0.83% 7 0.65% RETINAL DYSPLASIA GEOGRAPHIC 4 0.25% 1 0.09% CHOROIDAL HYPOPLASIA 10.09% STAPHYLOMA / COLOBOMA 20.18% RETINAL DETACHMENT 2 0.13% RETINAL HEMORRHAGE 1 0.06% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.19% OTHER OTHER, INHERITED 4 0.25% 4 0.37% OTHER, NON -INHERITED 3 0.19% 32 2.95% NORMAL NORMAL 1357 86.38% 968 89.22%

CATAHOULA LEOPARD DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option Membranes - iris to iris

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Catahoula leopard dog breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

CATAHOULA LEOPARD DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF CATAHOULA LEOPARD DOG EXAMINED 68 123

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 2.94% EYELIDS DISTICHIASIS 10.81% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.81% UVEA IRIS COLOBOMA 4 5.88% 2 1.63% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 1.47% 7 5.69% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.81% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 2.94% 3 2.44% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.47% ANTERIOR CORTEX INTERMEDIATE* 1 1.47% 2 1.63% POSTERIOR CORTEX PUNCTATE* 10.81% POSTERIOR CORTEX INTERMEDIATE* 1 1.47% CAPSULAR SIGN. UNKNOWN 21.63% VITREOUS PERSISTENT HYALOID ARTERY 1 1.47% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 3 4.41% 3 2.44% STAPHYLOMA / COLOBOMA 1 1.47% RETINAL DETACHMENT 1 1.47% OPTIC NERVE COLOBOMA 21.63% OTHER OTHER, INHERITED 97.32% OTHER, NON -INHERITED 32.44% NORMAL NORMAL 60 88.24% 101 82.11%

CAVALIER KING CHARLES SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1,2 NO with multiple ocular defects

B. Keratoconjunctivitis Not defined 8 NO Sicca (dry eye)

C. Entropion Not defined 7 Breeder option

D. Distichiasis Not defined 1 Breeder option

E. Corneal dystrophy Not defined 1,3,4 Breeder option - epithelial/stromal

F. Exposure keratopathy Not defined 1 Breeder option syndrome/ macroblepharon

G. Persistent pupillary Not defined 6 Breeder option membranes - iris to iris

H. Cataract Not defined 1,5 NO

I. Vitreous Not defined 7 Breeder option degeneration

J. Retinal dysplasia Not defined 1 Breeder option - folds

K. Retinal dysplasia Not defined 1 NO - geographic/detached

Description and Comments

A. Microphthalmia with multiple ocular defects

Microphthalmia is a congenital defect characterized by a small eye often associated with other ocular malformations, including defects of the cornea, anterior chamber, lens and/or retina

B. Keratoconjunctivitis sicca (KCS)/dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

C. Entropion

D. Distichiasis

E. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral. In these dogs, lesions are circular or semicircular central crystalline deposits in the anterior corneal stroma that appear between 2 and 5 years of age. It may be associated with exophthalmos and lagophthalmos common in these dogs.

F. Exposure keratopathy syndrome/macroblepharon

G. Persistent pupillary membranes (PPM)

H. Cataract

In the Cavalier King Charles spaniel, onset is at an early age (less than 6 months), affecting the cortex and nucleus with rapid progression to complete cataract, resulting in blindness.

I. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

J. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

K. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Narfstrom K, Dubielzig, R: Posterior lenticonus, cataracts and microphthalmia: Congenital defects in the Cavalier King Charles spaniel. J Small Anim Pract 25:669, 1984.

3. Crispin SM: Crystalline stromal dystrophy in the Cavalier King Charles spaniel. Proc Am Coll Vet Ophthalmol 17:18, 1986.

4. Crispin S, Barnett KC: Dystrophy, degeneration and infiltration of the canine cornea. J Small Anim Pract 24:63, 1983.

5. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

8. Sanchez RF, Innocent G, Mould J, Billson FM: Canine keratoconjunctivitis sicca: disease trends in a review. J Small Anim Pract 48:211-217, 2007.

CAVALIER KING CHARLES SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF CAVALIER KING CHARLES SPANIEL 6383 19409 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 8 0.13% 25 0.13% DRY EYE 2 0.03% 12 0.06% GLAUCOMA 2 0.03% 1 0.01% EYELIDS ENTROPION 21 0.33% 91 0.47% ECTROPION 1 0.02% 6 0.03% DISTICHIASIS 498 7.80% 1838 9.47% ECTOPIC CILIA 30.02% EURY/MACRO BLEPHARON 14 0.22% 54 0.28% THIRD EYELID CARTILAGE ANOMALY/EVERSION 40.02% GLAND PROLAPSE 4 0.06% 6 0.03% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 3 0.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 494 7.74% 1669 8.60% DYSTROPHY--ENDOTHELIAL 6 0.09% 25 0.13% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.03% 9 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 11 0.17% 53 0.27% UVEA IRIS / CILIARY BODY CYSTS 2 0.03% 8 0.04% IRIS COLOBOMA 2 0.03% 2 0.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 19 0.30% 223 1.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.05% 20 0.10% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.08% 22 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 4 0.06% 39 0.20% ENDOTHELIAL PIGMENT/NO PPM 60.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 234 3.67% 552 2.84% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 11 0.17% ANTERIOR CORTEX PUNCTATE* 37 0.58% 86 0.44% ANTERIOR CORTEX INTERMEDIATE* 56 0.88% 122 0.63% ANTERIOR CORTEX DIFFUSE* 6 0.09% 24 0.12% ANT. CORTEX PUNCT. SIGN. UNKNOWN 90 1.41% 248 1.28% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 13 0.20% POSTERIOR CORTEX PUNCTATE* 11 0.17% 42 0.22% POSTERIOR CORTEX INTERMEDIATE* 34 0.53% 108 0.56% POSTERIOR CORTEX DIFFUSE* 11 0.17% 32 0.16% POSTERIOR CORTEX SUSPICIOUS 2 0.03% POST. CORTEX PUNCT. SIGN. UNKNOWN 14 0.22% 54 0.28% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 5 0.08% EQUATORIAL CORTEX PUNCTATE* 14 0.22% 31 0.16% EQUATORIAL CORTEX INTERMEDIATE* 20 0.31% 65 0.33% EQUATORIAL CORTEX DIFFUSE* 2 0.03% 4 0.02%

CAVALIER KING CHARLES SPANIEL

1991 - 1999 2000-2007 EQUATORIAL CORTEX SUSPICIOUS 1 0.02% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 13 0.20% 52 0.27% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.02% ANTERIOR SUTURES PUNCTATE* 3 0.05% 17 0.09% ANTERIOR SUTURES INTERMEDIATE* 2 0.03% 13 0.07% ANTERIOR SUTURES DIFFUSE* 10.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.11% 51 0.26% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 3 0.05% POSTERIOR SUTURES PUNCTATE* 22 0.34% 27 0.14% POSTERIOR SUTURES INTERMEDIATE* 13 0.20% 38 0.20% POSTERIOR SUTURES DIFFUSE* 1 0.02% 4 0.02% POSTERIOR SUTURES SUSPICIOUS 4 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 64 1.00% 185 0.95% NUCLEUS (SIZE UNSPECIFIED)* 10 0.16% NUCLEUS PUNCTATE* 9 0.14% 43 0.22% NUCLEUS INTERMEDIATE* 22 0.34% 77 0.40% NUCLEUS DIFFUSE* 7 0.11% 9 0.05% NUCLEUS SUSPICIOUS 1 0.02% NUCLEUS PUNCTATE SIGN. UNKNOWN 40 0.63% 114 0.59% ANTERIOR CAPSULE 2 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.03% ANTERIOR CAPSULE SUSPICIOUS 2 0.03% CAPSULAR PUNCTATE 5 0.08% 19 0.10% CAPSULAR INTERMEDIATE 20 0.10% CAPSULAR DIFFUSE 40.02% CAPSULAR SIGN. UNKNOWN 8 0.13% 74 0.38% POSTERIOR CAPSULE 5 0.08% POSTERIOR CAPSULE SIGN. UNKNOWN 5 0.08% POSTERIOR CAPSULE SUSPICIOUS 5 0.08% GENERALIZED CATARACT* 11 0.17% 21 0.11% SUBLUXATION/LUXATION 50.03% VITREOUS PERSISTENT HYALOID ARTERY 21 0.33% 47 0.24% PHPV/PTVL 12 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 10 0.16% 57 0.29% DEGENERATION ANTERIOR CHAMBER 15 0.08% DEGENERATION SYNERESIS 28 0.14% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.05% 12 0.06% RETINAL ATROPHY--SUSPICIOUS 22 0.34% 60 0.31% RETINAL DYSPLASIA FOCAL/FOLDS 622 9.74% 1682 8.67% RETINAL DYSPLASIA GEOGRAPHIC 273 4.28% 636 3.28% RETINAL DYSPLASIA GENERALIZED/DETACHED 46 0.72% 64 0.33% CHOROIDAL HYPOPLASIA 1 0.02% 3 0.02% STAPHYLOMA / COLOBOMA 30.02% RETINAL DETACHMENT 12 0.19% 6 0.03% RETINAL HEMORRHAGE 3 0.05% 3 0.02% OPTIC NERVE COLOBOMA 2 0.03% 4 0.02% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.03%

CAVALIER KING CHARLES SPANIEL

1991 - 1999 2000-2007 OPTIC NERVE HYPOPLASIA 80.04% MICROPAPILLA 1 0.02% 15 0.08% OTHER OTHER, INHERITED 67 1.05% 91 0.47% OTHER, NON -INHERITED 54 0.85% 903 4.65% NORMAL NORMAL 4260 66.74% 14092 72.61%

CHESAPEAKE BAY RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 1,3,4 Breeder option - all other forms Not defined 4 NO

D. Cataract Presumed 1,2 NO incomplete dominant

E. Retinal dysplasia Not defined 1 Breeder option - folds

F. Retinal dysplasia Not defined 1 NO - geographic/detached

G. Retinal atrophy Autosomal 1,5 NO - generalized (prcd) recessive

Description and Comments

A. Distichiasis

Eyelashes abnormally located in the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

C. Persistent pupillary membranes (PPM)

D. Cataract

Hereditary cataracts have been described in the Chesapeake Bay retriever and affect the young adult dog. They appear as posterior cortical, axial, triangular opacities and the Y suture tips can be affected in both the anterior and posterior cortices. Extension of the cataract into the posterior cortex and progression to impair vision can occur. An autosomal dominant inheritance with incomplete penetrance has been proposed; however, the genetics have not been completely defined and additional studies will be required.

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

F. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina. These two forms are associated with vision impairment or blindness. Retinal dysplasia is known to be inherited in many breeds. The genetic relationship between the three forms of retinal dysplasia is not known for all breeds.

G. Retinal atrophy-generalized (prcd)

This photoreceptor degeneration is characterized by slow death of visual cells following their normal development. The disease begins clinically with signs of night blindness followed by day blindness. Ophthalmoscopic abnormalities characteristic of mid-stage disease are found in dogs between 8-12 months of age. The lesions are progressive and end-stage lesions are evident by 2-3 years of age. Other affected dogs have similar ophthalmoscopic lesions, but these are present at a later age (4-7 years). It is possible that two different types of PRA (early onset and late onset) are present in the breed; such a situation occurs in the Norwegian Elkhound. The age for early diagnosis by ERG has not been definitively established for the breed.

Studies have shown that PRA in the Chesapeake is inherited as autosomal recessive. The mutation is allelic to that present in miniature poodles, Portuguese water dog, Labrador retriever, English and American cocker spaniels and others. The locus is termed the progressive rod-cone degeneration (prcd) gene. A mutation test is now available for early diagnosis. Contact: For testing: Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Gelatt KN et al: Cataracts in Chesapeake Bay retrievers. J Am Vet Med Assoc 175:1176, 1979.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

CHESAPEAKE BAY RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF CHESAPEAKE BAY RETRIEVER EXAMINED 4494 4649

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 0.09% 3 0.06% GLAUCOMA 2 0.04% 1 0.02% EYELIDS ENTROPION 18 0.40% 25 0.54% ECTROPION 3 0.07% 3 0.06% DISTICHIASIS 320 7.12% 312 6.71% ECTOPIC CILIA 10.02% EURY/MACRO BLEPHARON 20.04% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.02% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 21 0.47% 29 0.62% DYSTROPHY--ENDOTHELIAL 1 0.02% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.02% UVEA IRIS / CILIARY BODY CYSTS 3 0.07% 11 0.24% IRIS COLOBOMA 10.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 62 1.38% 73 1.57% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.04% 5 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.02% 1 0.02% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 6 0.13% 8 0.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 234 5.21% 189 4.07% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 11 0.24% ANTERIOR CORTEX PUNCTATE* 15 0.33% 12 0.26% ANTERIOR CORTEX INTERMEDIATE* 24 0.53% 18 0.39% ANTERIOR CORTEX DIFFUSE* 2 0.04% 1 0.02% ANTERIOR CORTEX SUSPICIOUS 3 0.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 50 1.11% 56 1.20% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.02% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 22 0.49% POSTERIOR CORTEX PUNCTATE* 37 0.82% 39 0.84% POSTERIOR CORTEX INTERMEDIATE* 77 1.71% 79 1.70% POSTERIOR CORTEX DIFFUSE* 8 0.18% 4 0.09% POSTERIOR CORTEX SUSPICIOUS 3 0.07% POST. CORTEX PUNCT. SIGN. UNKNOWN 17 0.38% 37 0.80% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 9 0.20% EQUATORIAL CORTEX PUNCTATE* 14 0.31% 13 0.28% EQUATORIAL CORTEX INTERMEDIATE* 20 0.45% 16 0.34% EQUATORIAL CORTEX DIFFUSE* 4 0.09% 1 0.02% EQUATORIAL CORTEX SUSPICIOUS 2 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 27 0.60% 28 0.60% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.04% ANTERIOR SUTURES PUNCTATE* 2 0.04% 2 0.04% ANTERIOR SUTURES INTERMEDIATE* 4 0.09% 2 0.04%

CHESAPEAKE BAY RETRIEVER

1991 - 1999 2000-2007 ANTERIOR SUTURES SUSPICIOUS 3 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 5 0.11% 9 0.19% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 6 0.13% POSTERIOR SUTURES PUNCTATE* 20 0.45% 12 0.26% POSTERIOR SUTURES INTERMEDIATE* 17 0.38% 16 0.34% POSTERIOR SUTURES DIFFUSE* 4 0.09% 1 0.02% POSTERIOR SUTURES SUSPICIOUS 1 0.02% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.24% 24 0.52% NUCLEUS (SIZE UNSPECIFIED)* 3 0.07% NUCLEUS PUNCTATE* 2 0.04% 4 0.09% NUCLEUS INTERMEDIATE* 6 0.13% 6 0.13% NUCLEUS DIFFUSE* 5 0.11% 3 0.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 12 0.27% 14 0.30% ANTERIOR CAPSULE 4 0.09% ANTERIOR CAPSULE SIGN. UNKNOWN 6 0.13% CAPSULAR PUNCTATE 1 0.02% 14 0.30% CAPSULAR INTERMEDIATE 1 0.02% 9 0.19% CAPSULAR SIGN. UNKNOWN 8 0.18% 56 1.20% POSTERIOR CAPSULE 11 0.24% POSTERIOR CAPSULE SIGN. UNKNOWN 10 0.22% POSTERIOR CAPSULE SUSPICIOUS 6 0.13% GENERALIZED CATARACT* 2 0.04% 6 0.13% SUBLUXATION/LUXATION 2 0.04% 3 0.06% VITREOUS PERSISTENT HYALOID ARTERY 9 0.20% 10 0.22% PHPV/PTVL 3 0.07% 1 0.02% DEGENERATION (NO FURTHER SPECIFICATION) 16 0.36% 12 0.26% DEGENERATION ANTERIOR CHAMBER 14 0.30% DEGENERATION SYNERESIS 40.09% FUNDUS RETINAL ATROPHY--GENERALIZED 20 0.45% 16 0.34% RETINAL ATROPHY--SUSPICIOUS 22 0.49% 18 0.39% RETINAL DYSPLASIA FOCAL/FOLDS 25 0.56% 28 0.60% RETINAL DYSPLASIA GEOGRAPHIC 26 0.58% 16 0.34% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.02% CHOROIDAL HYPOPLASIA 3 0.07% RETINAL DETACHMENT 1 0.02% RETINAL HEMORRHAGE 10.02% OPTIC NERVE COLOBOMA 20.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.02% OPTIC NERVE HYPOPLASIA 10.02% MICROPAPILLA 10.02% OTHER OTHER, INHERITED 33 0.73% 17 0.37% OTHER, NON -INHERITED 22 0.49% 264 5.68% NORMAL NORMAL 3623 80.62% 3887 83.61%

CHIHUAHUA

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1,2 NO -endothelial

B. Persistent pupillary membranes iris to iris Not defined 1,3 Breeder option all other forms Not defined 3 NO

C. Cataract Not defined 1 NO

D. Vitreous degeneration Not defined 1 Breeders option

Description and Comments

A. Corneal dystrophy- endothelial

An abnormal loss of the inner lining of the cornea that causes progressive fluid retention (edema). With time the edema results in keratitis and decreased vision. This usually does not occur until the animal is older.

In the Chihuahua, this is a primary degenerative endothelial disease leading to progressive and permanent corneal edema. It is suspected to be an heritable disorder. There is no sex predilection. The condition is observed in older dogs, 6 to 13 years of age with a mean of 9.5 years. The corneal edema starts asymptomatically in the dorsal temporal corneal quadrant of one eye and slowly progresses medially, eventually involving the entire cornea. Typically, it becomes bilateral. In the later stages, discomfort, intracorneal bullae with subsequent ulceration and keratoconus may develop. Histologically, the primary endothelial disease appears slightly different from the clinically similar disorder of the Boston Terrier.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Chihuahua breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Martin CL, Dice PF: Corneal endothelial dystrophy in the dog. J Am Anim Hosp Assoc 18:327, 1982.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

CHIHUAHUA

1991 - 1999 2000-2007 TOTAL NUMBER OF CHIHUAHUA EXAMINED 130 300

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 10.33% DISTICHIASIS 5 3.85% 4 1.33% THIRD EYELID GLAND PROLAPSE 1 0.77% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 20.67% DYSTROPHY--ENDOTHELIAL 2 1.54% 1 0.33% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 5.38% 18 6.00% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.33% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 12 9.23% 15 5.00% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 1.54% ANTERIOR CORTEX PUNCTATE* 2 1.54% 1 0.33% ANTERIOR CORTEX INTERMEDIATE* 2 1.54% 9 3.00% ANTERIOR CORTEX DIFFUSE* 10.33% ANT. CORTEX PUNCT. SIGN. UNKNOWN 20.67% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.77% POSTERIOR CORTEX INTERMEDIATE* 4 3.08% 3 1.00% POSTERIOR CORTEX DIFFUSE* 10.33% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.33% EQUATORIAL CORTEX PUNCTATE* 1 0.77% EQUATORIAL CORTEX INTERMEDIATE* 1 0.77% 2 0.67% EQUATORIAL CORTEX DIFFUSE* 10.33% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.67% POSTERIOR SUTURES PUNCTATE* 10.33% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.33% NUCLEUS INTERMEDIATE* 4 3.08% 1 0.33% NUCLEUS DIFFUSE* 31.00% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.67% GENERALIZED CATARACT* 2 1.54% 2 0.67% SUBLUXATION/LUXATION 10.33% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 13 10.00% 10 3.33% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.77% 3 1.00% RETINAL ATROPHY--SUSPICIOUS 2 1.54% 2 0.67% RETINAL DYSPLASIA FOCAL/FOLDS 2 1.54% 2 0.67% OPTIC NERVE COLOBOMA 10.33% OTHER OTHER, INHERITED 1 0.77% 2 0.67% OTHER, NON -INHERITED 1 0.77% 15 5.00% NORMAL NORMAL 95 73.08% 244 81.33%

CHINESE CRESTED

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - all other forms Not defined 3 NO

B. Cataract Not defined 1 NO

C. Vitreous degeneration - anterior chamber Not defined 1,3,6 Breeder option - syneresis Not defined 1,4,6 Breeder option

D. Retinal atrophy Autosomal 3,5 NO - generalized (prcd) recessive

Description and Comments

A. Persistent pupillary membrane (PPM)

B. Cataract

C. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

D. Retinal atrophy-generalized (prcd)

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Chinese Crested breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

6. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

CHINESE CRESTED

1991 - 1999 2000-2007 TOTAL NUMBER OF CHINESE CRESTED EXAMINED 472 3565

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 30.08% DRY EYE 1 0.21% 8 0.22% GLAUCOMA 10.03% EYELIDS ENTROPION 30.08% DISTICHIASIS 1 0.21% 11 0.31% THIRD EYELID GLAND PROLAPSE 20.06% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.42% 16 0.45% DYSTROPHY--ENDOTHELIAL 20.06% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 4 0.85% 1 0.03% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.21% 2 0.06% UVEA IRIS / CILIARY BODY CYSTS 20.06% IRIS COLOBOMA 1 0.21% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.85% 75 2.10% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.64% 4 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.42% 5 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.42% 3 0.08% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 2.12% 74 2.08% ANTERIOR CORTEX PUNCTATE* 2 0.42% 13 0.36% ANTERIOR CORTEX INTERMEDIATE* 2 0.42% 18 0.50% ANTERIOR CORTEX DIFFUSE* 2 0.42% 3 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.21% 37 1.04% POSTERIOR CORTEX PUNCTATE* 1 0.21% 8 0.22% POSTERIOR CORTEX INTERMEDIATE* 19 0.53% POSTERIOR CORTEX DIFFUSE* 40.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 60.17% EQUATORIAL CORTEX PUNCTATE* 1 0.21% 8 0.22% EQUATORIAL CORTEX INTERMEDIATE* 2 0.42% 15 0.42% EQUATORIAL CORTEX DIFFUSE* 20.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.21% 13 0.36% ANTERIOR SUTURES INTERMEDIATE* 10.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30.08% POSTERIOR SUTURES PUNCTATE* 10.03% POSTERIOR SUTURES INTERMEDIATE* 1 0.21% 2 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.21% 3 0.08% NUCLEUS PUNCTATE* 60.17% NUCLEUS INTERMEDIATE* 40.11% NUCLEUS DIFFUSE* 10.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 50.14% CAPSULAR PUNCTATE 30.08% CAPSULAR INTERMEDIATE 10.03%

CHINESE CRESTED

1991 - 1999 2000-2007 CAPSULAR DIFFUSE 10.03% CAPSULAR SIGN. UNKNOWN 90.25% GENERALIZED CATARACT* 60.17% SUBLUXATION/LUXATION 2 0.42% 16 0.45% VITREOUS PERSISTENT HYALOID ARTERY 2 0.42% 3 0.08% PHPV/PTVL 10.03% DEGENERATION (NO FURTHER SPECIFICATION) 15 3.18% 219 6.14% DEGENERATION ANTERIOR CHAMBER 125 3.51% DEGENERATION SYNERESIS 73 2.05% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.64% 16 0.45% RETINAL ATROPHY--SUSPICIOUS 2 0.42% 51 1.43% RETINAL DYSPLASIA FOCAL/FOLDS 22 0.62% RETINAL DYSPLASIA GEOGRAPHIC 1 0.21% 4 0.11% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.42% CHOROIDAL HYPOPLASIA 10.03% RETINAL DETACHMENT 50.14% RETINAL HEMORRHAGE 20.06% OPTIC NERVE COLOBOMA 70.20% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.85% OPTIC NERVE HYPOPLASIA 30.08% MICROPAPILLA 10.03% OTHER OTHER, INHERITED 6 1.27% 14 0.39% OTHER, NON -INHERITED 3 0.64% 129 3.62% NORMAL NORMAL 413 87.50% 3072 86.17%

CHINESE SHAR PEI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1 NO

B. Entropion Not defined 1-5 NO

C. Prolapsed gland Not defined 1 Breeder option of third eyelid

D. Corneal dystrophy Not defined 1-3 Breeder option - epithelial/stromal

E. Chronic superficial Not defined 8 Breeder option keratitis/pannus

F. Persistent pupillary Not defined 8 Breeder option membranes - iris to iris

G. Cataract Not defined 1 NO

H. Lens luxation Simple 1,6,7 NO autosomal recessive

I. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Glaucoma

Glaucoma is characterized by an elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of the intraocular pressure (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

B. Entropion

The condition is a particularly severe problem in the Shar Pei and is compounded by breeder selection for facial conformation with heavy skin folds which encourages formation of entropion.

C. Prolapse of the gland of the third eyelid

This condition, which is often referred to as "cherry eye", represents a protrusion of the glandular portion of the third eyelid. The mode of inheritance of this disorder is unknown. Exposure of the gland may cause ocular irritation and be associated with decreased tears (Keratoconjunctivitis sicca).

D. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

E. Chronic superficial keratitis/Pannus

F. Persistent pupillary membranes (PPM)

G. Cataract

H. Lens luxation

I. Retinal atrophy-generalized

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Lenarduzzi R: Management of eyelid problems in Chinese Shar-Pei puppies. Vet Med Small Anim Clin 78:548, 1983.

3. Bedford PGC: Entropion in Shar Peis (Correspondence). Vet Rec 115:666, 1984.

4. Startup FG: Entropion in the Shar Pei (Correspondence) Vet Rec 116:57, 1985.

5. Barnett, KC: Inherited eye disease in the dog and cat. J Small Anim Pract 29:462, 1988.

6. Lazarus, JA, Pickett JP, Champagne ES: Characterization and heritability of primary lens luxation in a related family of non-inbred Chinese Shar Peis. Proceedings American College of Veterinary Ophthalmologists 28:3, 1998.

7. Lazarus JA, Pickett JP, Champagne ES: Primary lens luxation in the Chinese Shar Pei: clinical and hereditary characteristics. Vet Ophthalmol v.1,No2-3:101, 1998.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

CHINESE SHAR PEI

1991 - 1999 2000-2007 TOTAL NUMBER OF CHINESE SHAR PEI EXAMINED 325 130

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.77% EYELIDS ENTROPION 182 56.00% 52 40.00% ECTROPION 8 2.46% 2 1.54% DISTICHIASIS 1 0.31% 1 0.77% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.77% GLAND PROLAPSE 1 0.31% 1 0.77% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.62% 1 0.77% DYSTROPHY--ENDOTHELIAL 3 0.92% 3 2.31% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 25 7.69% 4 3.08% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 3 0.92% 1 0.77% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 2.15% 5 3.85% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.62% 2 1.54% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.92% 2 1.54% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 3.08% 6 4.62% ANTERIOR CORTEX PUNCTATE* 1 0.31% ANTERIOR CORTEX INTERMEDIATE* 21.54% ANTERIOR CORTEX DIFFUSE* 1 0.31% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.62% 1 0.77% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.31% POSTERIOR CORTEX PUNCTATE* 1 0.31% POSTERIOR CORTEX INTERMEDIATE* 3 0.92% 2 1.54% ANTERIOR SUTURES INTERMEDIATE* 1 0.31% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.31% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.31% POSTERIOR SUTURES PUNCTATE* 1 0.31% 1 0.77% POSTERIOR SUTURES INTERMEDIATE* 10.77% POSTERIOR SUTURES DIFFUSE* 1 0.31% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.62% 1 0.77% NUCLEUS (SIZE UNSPECIFIED)* 1 0.31% CAPSULAR SIGN. UNKNOWN 64.62% POSTERIOR CAPSULE 1 0.31% SUBLUXATION/LUXATION 7 2.15% 2 1.54% VITREOUS PERSISTENT HYALOID ARTERY 10.77% DEGENERATION (NO FURTHER SPECIFICATION) 10.77% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.62% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.31% 2 1.54% RETINAL DETACHMENT 1 0.31%

CHINESE SHAR PEI

1991 - 1999 2000-2007 OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.31% OTHER OTHER, INHERITED 16 4.92% 3 2.31% OTHER, NON -INHERITED 3 0.92% 10 7.69% NORMAL NORMAL 153 47.08% 64 49.23%

CHINOOK HUSKY

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option membranes - iris to iris

B. Cataract Not defined 1 NO

C. Vitreous Not defined 2 Breeder option degeneration

D. Retinal dysplasia Not defined 1 Breeder option - focal/folds

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Chinook Husky breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

2. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

CHINOOK HUSKY

1991 - 1999 2000-2007 TOTAL NUMBER OF CHINOOK HUSKY EXAMINED 102 597

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 30.50% CORNEA DYSTROPHY--ENDOTHELIAL 10.17% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 2.94% 19 3.18% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 9.80% 24 4.02% ANTERIOR CORTEX PUNCTATE* 10.17% ANTERIOR CORTEX INTERMEDIATE* 1 0.98% 2 0.34% ANTERIOR CORTEX DIFFUSE* 10.17% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 1.96% 12 2.01% POSTERIOR CORTEX PUNCTATE* 1 0.98% POSTERIOR CORTEX INTERMEDIATE* 2 1.96% 8 1.34% POSTERIOR CORTEX DIFFUSE* 1 0.98% 3 0.50% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.98% 5 0.84% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 1.96% EQUATORIAL CORTEX INTERMEDIATE* 4 3.92% 3 0.50% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 1.96% 3 0.50% ANTERIOR SUTURES INTERMEDIATE* 10.17% POSTERIOR SUTURES PUNCTATE* 10.17% POSTERIOR SUTURES INTERMEDIATE* 40.67% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30.50% NUCLEUS PUNCTATE* 1 0.98% 4 0.67% NUCLEUS INTERMEDIATE* 40.67% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 2.94% 4 0.67% CAPSULAR INTERMEDIATE 20.34% CAPSULAR DIFFUSE 20.34% CAPSULAR SIGN. UNKNOWN 2 1.96% 9 1.51% GENERALIZED CATARACT* 10.17% VITREOUS PERSISTENT HYALOID ARTERY 20.34% DEGENERATION (NO FURTHER SPECIFICATION) 30.50% DEGENERATION SYNERESIS 71.17% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 0.98% 32 5.36% RETINAL DYSPLASIA GEOGRAPHIC 10.17% OTHER OTHER, INHERITED 2 1.96% OTHER, NON -INHERITED 1 0.98% 34 5.70% NORMAL NORMAL 80 78.43% 508 85.09%

CHOW CHOW

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 NO

B. Ectropion Not defined 7 Breeder option

C. Corneal dystrophy Not defined 1 NO - endothelial

D. Exposure keratopathy Not defined 6,7 Breeder option syndrome/ Pigmentary keratitis

E. Persistent pupillary membranes - iris to iris Not defined 1,5 Breeder option - all other forms Not defined 5 NO

F. Glaucoma Not defined 1,2,4 NO

G. Cataract Not defined 1,3 NO

DESCRIPTION AND COMMENTS

A. Entropion

Entropion in the Chow Chow has been observed for decades and is definitely related to the amount of skin covering the head and face. Because of the conformation admired by both fanciers and the judges, it is doubtful that we will see a significant change in the incidence of entropion as folds are, in many cases, desired by these individuals. Entropion requires surgical correction in the Chow Chow to return comfort and decrease chances for vision loss.

B. Ectropion

A conformational defect resulting in eversion of the eyelids, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Corneal dystrophy-endothelial

Corneal endothelial dystrophy is an abnormal loss of the inner lining of the cornea that causes progressive fluid retention (edema). With time the edema results in keratitis and decreased vision.

D. Exposure keratopathy syndrome / Pigmentary keratitis

E. Persistent pupillary membranes (PPM)

Major PPM's have been observed in this breed. Many ophthalmologists have observed puppies so severely affected that they are temporarily or permanently blind. The blindness is due to adherence of the membranes to the cornea and/or lens.

F. Glaucoma

Age of onset in the Chow Chow appears to be anywhere between 3-6 years of age and has been observed as a bilateral condition. Gonioscopy has shown extremely narrow iridocorneal angles and in many regions no evidence of trabecular meshwork.

G. Cataract

In the Chow Chow, the only reported cataract is congenital. The clinical appearance is variable, ranging from small nuclear or capsular opacities to generalized opacity. The central lens (nucleus) is most consistently affected with variable involvement of the peripheral lens (cortex). Concurrent ocular anomalies may include entropion, microphthalmia, persistent pupillary membranes, and retinal folds, although any direct relationship of these latter conditions to the cataract is unclear.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Corcaran KA, Koch SA, et al: Primary glaucoma in the Chow chow. Prog Vet Comp Ophthal 4:193, 1994.

3. Collins BK, et al: Familial cataracts and concurrent ocular anomalies in Chow chows. 200:1485, 1992.

4. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Vet Ophthal 2:97, 2004

5. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

6. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

7. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

CHOW CHOW

1991 - 1999 2000-2007 TOTAL NUMBER OF CHOW CHOW EXAMINED 384 448

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.52% 2 0.45% EYELIDS ENTROPION 118 30.73% 153 34.15% ECTROPION 7 1.82% 8 1.79% DISTICHIASIS 5 1.30% EURY/MACRO BLEPHARON 1 0.26% 1 0.22% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 1.04% 3 0.67% DYSTROPHY--ENDOTHELIAL 9 2.34% 6 1.34% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 5 1.30% 4 0.89% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 92.01% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 87 22.66% 193 43.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 5 1.30% 7 1.56% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 18 4.69% 22 4.91% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.52% 5 1.12% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 11 2.86% 5 1.12% ANTERIOR CORTEX PUNCTATE* 1 0.26% ANTERIOR CORTEX INTERMEDIATE* 4 1.04% 1 0.22% ANTERIOR CORTEX SUSPICIOUS 1 0.26% ANT. CORTEX PUNCT. SIGN. UNKNOWN 30.67% POSTERIOR CORTEX PUNCTATE* 2 0.52% POSTERIOR CORTEX INTERMEDIATE* 4 1.04% 2 0.45% POSTERIOR CORTEX SUSPICIOUS 1 0.26% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.26% 1 0.22% EQUATORIAL CORTEX PUNCTATE* 10.22% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.22% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.26% POSTERIOR SUTURES PUNCTATE* 1 0.26% NUCLEUS PUNCTATE* 1 0.26% NUCLEUS INTERMEDIATE* 1 0.26% 2 0.45% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.26% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.26% CAPSULAR SIGN. UNKNOWN 11 2.46% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.26% GENERALIZED CATARACT* 1 0.26% VITREOUS PERSISTENT HYALOID ARTERY 3 0.78% 1 0.22% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.26% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.78% 1 0.22% RETINAL ATROPHY--SUSPICIOUS 1 0.26% 2 0.45% RETINAL DYSPLASIA FOCAL/FOLDS 10.22% RETINAL DYSPLASIA GEOGRAPHIC 10.22%

CHOW CHOW

1991 - 1999 2000-2007 RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.26% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.26% OTHER OTHER, INHERITED 9 2.34% 6 1.34% OTHER, NON -INHERITED 19 4.24% NORMAL NORMAL 175 45.57% 192 42.86%

CLUMBER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1 NO

B. Distichiasis Not defined 1 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Entropion Not defined 1,2 Breeder option

E. Macroblepharon/ Not defined 1 Breeder option exposure keratopathy syndrome

F. Keratoconjunctivitis Not defined 1,4 NO sicca

G. Persistent pupillary membranes - iris to iris Not defined 1,3 Breeder option - all other forms Not defined 3 NO

H. Cataract Not defined 1 NO

I. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Microphthalmia

Microphthalmia is a congenital defect characterized by a small eye often associated with defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina

An association has been made between partial albinism, multiple ocular defects (especially microphthalmia) and deafness in a number of canine breeds including the Collie. From these reports it appears that a predominantly white hair coat is associated with a higher incidence of ocular defects.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Ectropion

A conformational defect resulting in eversion of the eyelids, which may cause ocular irritation. It is likely that ectropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

D. Entropion

A conformational defect resulting in "in-rolling" of one or both of the eyelids, which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

E. Macroblepharon/exposure keratopathy syndrome

Macroblepharon is defined as an exceptionally large palpebral fissure, macroblepharon in conjunction with laxity of the lateral canthal structures may lead to lower lid ectropion and upper lid entropion. Exposure keratopathy syndrome is a corneal disease involving all or part of the cornea, resulting from inadequate blinking. This results from a combination of anatomic features including shallow orbits, exophthalmos, macroblepharon and lagophthalmos. Either of these conditions may lead to severe ocular irritation.

F. Keratoconjunctivitis sicca

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

G. Persistent pupillary membranes

H. Cataract

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Clumber spaniel breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Hodgman SFJ: Abnormalities and defects in pedigree dogs. I. An investigation into the existence of abnormalities in pedigree dogs in the British Isles. J Small Anim Pract 4:447, 1963.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004

4. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007. .

CLUMBER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF CLUMBER SPANIEL EXAMINED 991 1090

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 0.40% 1 0.09% DRY EYE 4 0.40% 7 0.64% EYELIDS ENTROPION 227 22.91% 246 22.57% ECTROPION 195 19.68% 155 14.22% DISTICHIASIS 48 4.84% 86 7.89% ECTOPIC CILIA 10.09% EURY/MACRO BLEPHARON 63 6.36% 82 7.52% THIRD EYELID GLAND PROLAPSE 10.09% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.10% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.20% 3 0.28% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 9 0.91% 4 0.37% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 7 0.71% 4 0.37% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 30 3.03% 23 2.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.10% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.40% 2 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.10% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 51 5.15% 50 4.59% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.40% ANTERIOR CORTEX PUNCTATE* 10 1.01% 6 0.55% ANTERIOR CORTEX INTERMEDIATE* 6 0.61% 7 0.64% ANTERIOR CORTEX SUSPICIOUS 1 0.10% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 0.71% 13 1.19% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.71% POSTERIOR CORTEX PUNCTATE* 9 0.91% 12 1.10% POSTERIOR CORTEX INTERMEDIATE* 14 1.41% 20 1.83% POST. CORTEX PUNCT. SIGN. UNKNOWN 7 0.71% 7 0.64% EQUATORIAL CORTEX PUNCTATE* 30.28% EQUATORIAL CORTEX INTERMEDIATE* 3 0.30% 1 0.09% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.10% 2 0.18% ANTERIOR SUTURES PUNCTATE* 10.09% ANTERIOR SUTURES INTERMEDIATE* 2 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 60.55% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.10% POSTERIOR SUTURES PUNCTATE* 5 0.50% 3 0.28% POSTERIOR SUTURES INTERMEDIATE* 5 0.50% 6 0.55% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.40% 12 1.10% NUCLEUS PUNCTATE* 4 0.40% NUCLEUS INTERMEDIATE* 5 0.50% 2 0.18% NUCLEUS DIFFUSE* 3 0.30% 1 0.09%

CLUMBER SPANIEL

1991 - 1999 2000-2007 NUCLEUS SUSPICIOUS 1 0.10% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.10% 4 0.37% ANTERIOR CAPSULE 1 0.10% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.10% CAPSULAR PUNCTATE 1 0.10% CAPSULAR INTERMEDIATE 1 0.10% 2 0.18% CAPSULAR SIGN. UNKNOWN 30.28% POSTERIOR CAPSULE 2 0.20% GENERALIZED CATARACT* 1 0.10% VITREOUS PERSISTENT HYALOID ARTERY 2 0.20% 4 0.37% PHPV/PTVL 10.09% FUNDUS RETINAL ATROPHY--GENERALIZED 20.18% RETINAL ATROPHY--SUSPICIOUS 8 0.81% 4 0.37% RETINAL DYSPLASIA FOCAL/FOLDS 77 7.77% 80 7.34% RETINAL DYSPLASIA GEOGRAPHIC 4 0.40% 3 0.28% CHOROIDAL HYPOPLASIA 2 0.20% STAPHYLOMA / COLOBOMA 3 0.30% RETINAL DETACHMENT 10.09% OPTIC NERVE COLOBOMA 10.09% OTHER OTHER, INHERITED 14 1.41% 4 0.37% OTHER, NON -INHERITED 5 0.50% 47 4.31% NORMAL NORMAL 515 51.97% 589 54.04%

COCKER SPANIEL (*American) *The official breed name is Cocker Spaniel. The designation "American" has been used to avoid confusion and emphasize the distinction from the English Cocker Spaniel breed.

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1,7-13 NO

B. Distichiasis Not defined 1-4 Breeder option

C. Entropion Not defined 1 Breeder option

D. Ectropion Not defined 1 Breeder option

E. Eury/Macroblepharon Not defined 1 Breeder option

F. Imperforate Not defined 1 Breeder option lacrimal punctum

G. Prolapsed gland Not defined 1,5 Breeder option of the third eyelid

H. Keratoconjunctivitis Not defined 1,4 NO sicca / dry eye

I. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

J. Corneal dystrophy Not defined 1,6 Breeder option - posterior polymorphous

K. Chronic superficial Not defined 23 Breeder option keratitis/pannus

L. Exposure keratopathy Not defined 1,26 Breeder option syndrome/ Pigmentary keratitis

M. Persistent pupillary Not defined 24 Breeder option membrane - iris to iris

N. Cataract Presumed 1,4,14-19 NO autosomal recessive

O. Retinal atrophy Autosomal 1,21,22,25 NO - generalized (prcd) recessive

P. Retinal dysplasia Not defined 1, 20 Breeder option - folds

Q. Retinal dysplasia Not defined 1, 20 NO - geographic/detached

Description and Comments

A. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

B. Distichiasis

C. Entropion

D. Ectropion

E. Eury/Macroblepharon

F. Imperforate lacrimal punctum

A developmental anomaly resulting in failure of opening of the lacrimal duct adjacent to the eye. The lower punctum is more frequently affected. This defect usually results in epiphora, an overflow of tears onto the face.

G. Prolapsed gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated. Commonly referred to as "cherry eye".

H. Keratoconjunctivitis sicca/Dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

I. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

J. Corneal dystrophy- posterior polymorphous

Posterior polymorphous dystrophy appears as multifocal, non-pigmented, vesicular to linear posterior corneal opacities at the level of the corneal endothelium. The condition is bilateral and has been seen in dogs from 1-7 years of age. Progression of the dystrophy is limited, and there is no treatment. It differs from endothelial dystrophy by an absence of corneal edema. Corneal endothelial cells distant from the corneal opacities are normal.

K. Chronic superficial keratitis/Pannus

L. Exposure keratopathy syndrome / Pigmentary keratitis

M. Persistent pupillary membranes (PPM)

N. Cataract

In this breed, the onset of cataract may occur at an early age (less than 2 years) with rapid progression to maturity and associated with significant lens-induced inflammation.

O. Retinal atrophy-generalized (prcd)

Studies have shown that PRA in the Cocker spaniel is inherited as autosomal recessive. The mutation is allelic to that present in miniature poodles , Portuguese water dog, Labrador retriever and English cocker spaniels. The locus is termed the progressive rod-cone degeneration (prcd) gene. A marker-based linkage test is now available for early diagnosis. The test identifies genetically normal dogs (Type A) with 100% accuracy. The carrier state (type B) will not be affected but may produce PRA bred to an affected dog. The affected (Type C) is at risk for developing PRA. ERG testing is recommended to confirm this. In both type B and type C, false allele readings may lead to misdiagnosis. Current efforts are under research to eliminate these false readings.

P. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

Q. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Bedford PGC: The treatment of canine distichiasis by the method of partial tarsal plate excision. J Am Anim Hosp Assoc 15:59, 1979.

3. Lavach JD: Diseases of the eyelids (Part II). Comp Cont Ed 1: 485, 1979.

4. William LW, et al: A survey of ocular findings in the American cocker spaniel. J Am Anim Hosp Assoc 15:603, 1975.

5. Morgan RV, et al: Prolapse of the gland of the third eyelid in dogs: A retrospective study of 89 cases (1980-1990). J Am Anim Hosp Assoc 29:56, 1993.

6. Gwin RM, et al: Posterior polymorphous dystrophy of the cornea in cocker spaniels: Preliminary clinical and specular microscopic findings. Proc Am Coll Vet Ophthalmol 14:154, 1983.

7. Brooks DE et al: Canine glaucoma: Pathogenesis, diagnosis and treatment. Comp Cont Ed 5:292, 1983.

8. Gelatt KN: Animal models for glaucoma. Invest Ophthalmol Vis Sci 6:592, 1977.

9. Lovekin LG et al: Clinicopathologic changes in primary glaucoma in the Cocker spaniel. Am J Vet Res 29:379, 1978.

10. Peiffer RL: Animal models of glaucoma. ILAR News 26:10, 1983.

11. Slater, MR; Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Amer Vet Med Assoc. 188:1028, 1986.

12. Smith RIE, Peiffer RL, Wilcock BP: Some aspects of the pathology of canine glaucoma. Prog Vet Comp Ophthal 3:16, 1993.

13. Bedford PGC: A gonioscopic study of the iridocorneal angle in the English and American breeds of Cocker spaniel and the Basset Hound. J Small Anim Pract 18:631, 1977.

14. Olesen HP, et al: Congenital hereditary cataract in cocker spaniels. J Small Anim Pract 15:741, 1974.

15. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39, 1976.

16. Gelatt KN: Lens and cataract formation in the dog. Comp Cont Ed 1:175, 1979.

17. Yakely WL: Familial cataracts in the American Cocker spaniel. J Am Anim Hosp Assoc 7:127, 1971.

18. Yakely WL: Cataracts in the American Cocker spaniel. Proc Am Coll Vet Ophthalmol 6:27, 1975.

19. Yakely WL: A study of inheritability of cataracts in the American Cocker spaniel. J Am Vet Med Assoc 172:814, 1978.

20. MacMillan AD, Lipton DE: Heritability of multifocal retinal dysplasia in the American Cocker spaniel. J Am Vet Med Assoc 172:568, 1978.

21. Barnett KC: Canine retinopathies III. Other breeds. J Small Anim Pract 6:185, 1965.

22. Aguirre G, Acland G: Variation in retinal degeneration phenotype inherited at the PRCD locus. Exp Eye Res 46:663, 1988.

23. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

24. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

25. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

26. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

COCKER SPANIEL (AMERICAN)

1991 - 1999 2000-2007 TOTAL NUMBER OF COCKER SPANIEL (AMERICAN) EXAMINED 27349 18332

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 25 0.09% 8 0.04% DRY EYE 144 0.53% 34 0.19% GLAUCOMA 27 0.10% 1 0.01% EYELIDS ENTROPION 91 0.33% 53 0.29% ECTROPION 623 2.28% 269 1.47% DISTICHIASIS 14836 54.25% 8289 45.22% ECTOPIC CILIA 39 0.14% 10 0.05% EURY/MACRO BLEPHARON 105 0.38% 65 0.35% THIRD EYELID CARTILAGE ANOMALY/EVERSION 6 0.02% 2 0.01% GLAND PROLAPSE 90 0.33% 82 0.45% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 352 1.29% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 753 2.75% 506 2.76% DYSTROPHY--ENDOTHELIAL 20 0.07% 11 0.06% DERMOID 2 0.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 375 1.37% 118 0.64% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 114 0.42% 169 0.92% UVEA IRIS / CILIARY BODY CYSTS 3 0.01% 10 0.05% IRIS COLOBOMA 2 0.01% 4 0.02% PIGMENTARY UVEITIS 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 45 0.16% 63 0.34% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 19 0.07% 10 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20 0.07% 11 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 13 0.05% 14 0.08% ENDOTHELIAL PIGMENT/NO PPM 10.01% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2357 8.62% 1331 7.26% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 334 1.22% ANTERIOR CORTEX PUNCTATE* 400 1.46% 258 1.41% ANTERIOR CORTEX INTERMEDIATE* 439 1.61% 391 2.13% ANTERIOR CORTEX DIFFUSE* 102 0.37% 58 0.32% ANTERIOR CORTEX SUSPICIOUS 90 0.33% ANT. CORTEX PUNCT. SIGN. UNKNOWN 579 2.12% 662 3.61% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 281 1.03% POSTERIOR CORTEX PUNCTATE* 227 0.83% 160 0.87% POSTERIOR CORTEX INTERMEDIATE* 529 1.93% 451 2.46% POSTERIOR CORTEX DIFFUSE* 123 0.45% 76 0.41% POSTERIOR CORTEX SUSPICIOUS 48 0.18% POST. CORTEX PUNCT. SIGN. UNKNOWN 149 0.54% 149 0.81% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 66 0.24% EQUATORIAL CORTEX PUNCTATE* 48 0.18% 43 0.23%

COCKER SPANIEL (AMERICAN)

1991 - 1999 2000-2007 EQUATORIAL CORTEX INTERMEDIATE* 121 0.44% 125 0.68% EQUATORIAL CORTEX DIFFUSE* 30 0.11% 23 0.13% EQUATORIAL CORTEX SUSPICIOUS 22 0.08% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 82 0.30% 82 0.45% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 33 0.12% ANTERIOR SUTURES PUNCTATE* 56 0.20% 48 0.26% ANTERIOR SUTURES INTERMEDIATE* 41 0.15% 47 0.26% ANTERIOR SUTURES DIFFUSE* 5 0.02% 4 0.02% ANTERIOR SUTURES SUSPICIOUS 14 0.05% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 95 0.35% 70 0.38% ANTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 10.01% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 60 0.22% POSTERIOR SUTURES PUNCTATE* 73 0.27% 60 0.33% POSTERIOR SUTURES INTERMEDIATE* 95 0.35% 60 0.33% POSTERIOR SUTURES DIFFUSE* 11 0.04% 5 0.03% POSTERIOR SUTURES SUSPICIOUS 17 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 103 0.38% 142 0.77% POSTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 10.01% NUCLEUS (SIZE UNSPECIFIED)* 60 0.22% NUCLEUS PUNCTATE* 38 0.14% 16 0.09% NUCLEUS INTERMEDIATE* 111 0.41% 54 0.29% NUCLEUS DIFFUSE* 33 0.12% 22 0.12% NUCLEUS SUSPICIOUS 12 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 75 0.27% 40 0.22% ANTERIOR CAPSULE 61 0.22% ANTERIOR CAPSULE SIGN. UNKNOWN 30 0.11% ANTERIOR CAPSULE SUSPICIOUS 16 0.06% CAPSULAR PUNCTATE 4 0.01% 36 0.20% CAPSULAR INTERMEDIATE 4 0.01% 48 0.26% CAPSULAR DIFFUSE 1 0.00% 7 0.04% CAPSULAR SIGN. UNKNOWN 9 0.03% 132 0.72% POSTERIOR CAPSULE 86 0.31% POSTERIOR CAPSULE SIGN. UNKNOWN 40 0.15% POSTERIOR CAPSULE SUSPICIOUS 26 0.10% GENERALIZED CATARACT* 265 0.97% 121 0.66% GENERALIZED SUSPICIOUS 11 0.04% GENERALIZED SIGNIFICANTS UNKNOWN 2 0.01% SUBLUXATION/LUXATION 32 0.12% 24 0.13% VITREOUS PERSISTENT HYALOID ARTERY 21 0.08% 14 0.08% PHPV/PTVL 3 0.01% 5 0.03% DEGENERATION (NO FURTHER SPECIFICATION) 57 0.21% 30 0.16% DEGENERATION ANTERIOR CHAMBER 50.03% DEGENERATION SYNERESIS 13 0.07% FUNDUS RETINAL ATROPHY--GENERALIZED 92 0.34% 52 0.28% RETINAL ATROPHY--CENTRAL 2 0.01% RETINAL ATROPHY--SUSPICIOUS 170 0.62% 86 0.47% RETINAL DYSPLASIA FOCAL/FOLDS 3725 13.62% 2128 11.61%

COCKER SPANIEL (AMERICAN)

1991 - 1999 2000-2007 RETINAL DYSPLASIA GEOGRAPHIC 102 0.37% 41 0.22% RETINAL DYSPLASIA GENERALIZED/DETACHED 4 0.01% 5 0.03% CHOROIDAL HYPOPLASIA 13 0.05% 16 0.09% STAPHYLOMA / COLOBOMA 11 0.04% 3 0.02% RETINAL DETACHMENT 13 0.05% 1 0.01% RETINAL HEMORRHAGE 7 0.03% OPTIC NERVE COLOBOMA 73 0.27% 22 0.12% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 7 0.03% 1 0.01% OPTIC NERVE HYPOPLASIA 10.01% MICROPAPILLA 2 0.01% 1 0.01% OTHER OTHER, INHERITED 452 1.65% 180 0.98% OTHER, NON -INHERITED 75 0.27% 831 4.53% NORMAL NORMAL 10559 38.61% 8047 43.90%

COLLIE (Rough and smooth varieties)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1,2 NO

B. Distichiasis Not defined 1 Breeder option

C. Corneal dystrophy Not defined 34 Breeder option - epithelial/stromal

D. Proliferative Not defined 1,3-5 Breeder option keratoconjunctivitis

E. Persistent pupillary membranes - iris to iris Not defined 1,34 Breeder option - all other forms Not defined 34 NO

F. Cataract Not defined 1 NO

G. Persistent hyaloid Not defined 37 Breeder option artery

H. Retinal dysplasia Not defined 1 Breeder option - folds

I. Retinal atrophy Not defined 1 NO - generalized (rod/cone degeneration)

J. Retinal atrophy- Presumed 6-9 NO Rod/cone dysplasia autosomal type 2- (rcd2) recessive

K. Central progressive Not defined 33 NO retinal atrophy

L. Stationary night Presumed 10 NO blindness autosomal recessive

M. Choroidal hypoplasia autosomal 1,11-32,35,36,38 NO staphyloma/coloboma recessive retinal detachment polygenetic retinal hemorrhage optic nerve coloboma

Description and Comments

A. Microphthalmia

Microphthalmia is a congenital defect characterized by a small eye often associated with defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. In the collie, because there is significant clinical disease associated with the abnormal hairs, breeding of affected animals should be discouraged.

C. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

D. Proliferative keratoconjunctivitis

An acquired condition characterized by a progressive, pink, fleshy mass involving the cornea, raised bands of inflammatory tissue on the anterior aspect of the nictitating membrane, and conjunctivitis. The condition is most likely immune-mediated but affects Collies more frequently than other breeds.

E. Persistent pupillary membranes (PPM)

In the collie, this is a particularly serious problem noted frequently on routine screening examination. The majority of persistent pupillary membranes identified on routine screening examinations include iris sheets, and bridging from the iris to cornea and the iris to lens. These may result in vision impairment.

F. Cataract

G. Persistent hyaloid artery (PHA)

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined

I. Retinal atrophy-generalized

In the Collie, the rod/cone degeneration occurs much less commonly. The visual cells develop normally and then undergo degeneration, with blindness occurring in the adult dog (age 5-7 years).

J. Retinal atrophy - Rod-cone dysplasia type 2- (rcd2)

An inherited retinal disease characterized by abortive or abnormal development of rods and cones. The disease can be detected histologically by 6 weeks. Clinical night blindness is observed as early as 6 weeks with total blindness by 1 year of age. It may be diagnosed as early as 24 days with an ERG. Histologically the disease can be detected by 6 weeks. This form of retinal dysplasia is clinically similar to, but genetically distinct from that seen in the Irish setter.

For DNA testing contact Optigen®: rcd2-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

K. Central progressive retinal atrophy (CPRA)

The lesions first appear in the posterior pole (central retina), enlarge, coalesce and result in secondary retinal atrophy; progression from the posterior pole to the periphery occurs later. The age of onset varies from young adults to older animals but usually before 5 years of age. Although reported to be dominant with incomplete penetrance, the mode of inheritance of CPRA remains undetermined. The disease has rarely been seen in dogs bred and raised in the U.S. This limited geographic distribution has led some to speculate about a nutritional basis.

L. Stationary night blindness

An inherited defect in vision in which rod function is markedly abnormal or absent, but cone function is either normal or minimally affected. The condition does not progress to complete blindness, and there is no ophthalmoscopic evidence of retinal degeneration. Definitive diagnosis requires electroretinography.

M. Choroidal hypoplasia staphyloma/coloboma retinal detachment retinal hemorrhage optic nerve coloboma

A spectrum of malformations present at birth and ranging from inadequate development of the choroid (choroidal hypoplasia) to defects of the choroid, retina, or optic nerve (coloboma/staphyloma) to complete retinal detachment (with or without hemorrhage). Mildly affected animals will have no detectable vision deficit.

This disorder is collectively referred to as "Collie Eye Anomaly". Although there is a lack of scientific evidence, it is believed that the incidence and severity of this entity was decreased by breeding only "mildly affected" Collies. At this time, the Genetics Committee of the ACVO recommends against breeding Collies with any form of the Collie Eye anomaly. A DNA test is now available for CEA.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Gwin RM et al: Multiple ocular defects associated with partial albinism and deafness in the dog. J Am Anim Hosp Assoc 17:401, 1981.

3. Blogg RJ: Proliferative keratoconjunctivitis in the Collie. Trans Am Coll of Vet Ophthalmol 8:89, 1977.

4. Smith JS: Infiltrative corneal lesions resembling fibrous histiocytoma. J Am Vet Med Assoc 169:722, 1976.

5. Paulsen MI, et al: Nodular granulomatous episclerokeratitis in dogs: 19 cases (1973-1985). J Am Vet Med Assoc 190:1581, 1987.

6. Wolf ED et al: Rod-cone dysplasia in the collie. J Am Vet Med Assoc 173:1331, 1978.

7. Santos-Anderson: An inherited retinopathy in collies. Invest Ophthal Vis Sci 19:1281, 1980.

8. Acland G, et al: Canine early onset hereditary retinal degenerations: Genetic and biochemical distinction of three diseases. Proc Am Coll Vet Ophthalmol 11:1, 1980.

9. Woodford: Cyclic nucleotide metabolism in inherited retinopathy in the collie. Exp Eye Res 34:703, 1982.

10. Pickett JP, Lindley DM, Boosinger TR, et al: Stationary night blindness in a collie. Prog Vet Comp Ophthalmol 1:303, 1991.

11. Magrane W: Congenital anomaly of the optic nerve in collies. North Am Vet 34:646, 1953.

12. Roberts SR: Congenital posterior ectasia of the sclera in collie dogs. Am J Ophthalmol 50:451, 1960.

13. Donovan EF, Wyman M: Ocular fundus anomaly in the Collie. J Am Vet Med Assoc 147:1465, 1965.

14. Roberts SR, Dellaporta A: Congenital posterior ectasia of the sclera in collie dogs. I. Clinical features. Am J Ophthalmol 59:180, 1965.

15. Freeman HM, Donovan RD, Schepens CL: Retinal detachment, chorioretinal changes and staphyloma in the collie. I. Ophthalmoscopic findings. Arch Ophthalmol 76:412, 1966.

16. Roberts SR, et al: The collie ectasia syndrome. Am J Ophthalmol 62:728, 1966.

17. Roberts SR, Delaporta A, Winter FC: The collie ectasia syndrome. Pathology of eyes of pups one to fourteen days of age. Am J Ophthalmol 61:1458, 1966.

18. Roberts SR: Color dilution and hereditary defects in collie dogs. Am J Ophthalmol 63:1762, 1967.

19. Yakely WL et al: Genetic transmission of an ocular fundus anomaly in Collies. J Am Vet Med Assoc 152:457, 1968.

20. Donovan RH, Freeman HM, Schepens CL: Anomaly of the collie eye. J Am Vet Med Assoc 155:872, 1969.

21. Freeman HM, et al: Chorioretinal changes, juxtapapillary staphyloma and retinal detachment in the collie. Mod Probl Ophthalmol 8:111, 1969.

22. Latshaw WK, Wyman M, Venzke NG: Embryologic development of an anomaly of ocular fundus in the collie dog. Am J Vet Res 30:211, 1969.

23. Roberts SR, et al: The Collie eye anomaly. J Am Vet Med Assoc 155:859, 1969.

24. Wyman M, Donovan EF: Eye anomaly of the collie. J Am Vet Med Assoc 165:866, 1969.

25. Blogg JR: Collie eye anomaly. Austral Vet J 46:530, 1970.

26. Bjerkas E: Collie eye anomaly in the rough collie in Norway. J Small Anim Pract 32:89, 1991.

27. Yakely WL: Collie eye anomaly: Decreased prevalence through selective breeding. J Am Vet Med Assoc 161:1103, 1972.

28. Barnett KC: Collie eye anomaly. J Small Anim Pract 20:537, 1979.

29. Brown GC, et al: Congenital pits of the optic nerve head. I. Experimental studies in collie dogs. Arch Ophthalmol 97:1341, 1979.

30. Bedford PGC: Collie eye anomaly in the United Kingdom. Vet Rec 111:263, 1982.

31. Stades FC, Barnett KC: Collie eye anomaly in collies in the Netherlands. Vet Q 3:66, 1981.

32. Vainisi SJ, et al: Treatment of serous retinal detachments associated with optic disk pits in dogs. J Am Vet Med Assoc 195:1233, 1989.

33. McLellan GJ, Watson P, et al: Vitamin E deficiency in canine retinal pigment epithelial dystrophy (central progressive retinal atrophy). Proceedings American College of Veterinary Ophthalmologists 27:38, 1997.

34. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

35. Lowe, JK, Kukekova, AV, Kirkness, EF, Langlois, MC, Aguirre, GD, Ackland, GM, Ostrander, EA: Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86- 95, 2003.

36. Wallin-Hakanson B, Wallin Hakanson N, Hedhammar A: Influence of selective breeding on prevalence of chorioretinal dysplasia and coloboma in the Rough Collie in Sweden. J Small Animal Practice 41: 56-59, 2000.

37. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

38. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

COLLIE (ROUGH OR SMOOTH)

1991 - 1999 2000-2007 TOTAL NUMBER OF COLLIE (ROUGH OR SMOOTH) EXAMINED 24617 17737

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 282 1.15% 277 1.56% DRY EYE 1 0.00% GLAUCOMA 6 0.02% EYELIDS ENTROPION 18 0.07% 29 0.16% ECTROPION 5 0.02% 2 0.01% DISTICHIASIS 484 1.97% 277 1.56% ECTOPIC CILIA 4 0.02% 1 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.00% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 212 0.86% 101 0.57% DYSTROPHY--ENDOTHELIAL 5 0.02% 7 0.04% DERMOID 1 0.00% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.01% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.01% 3 0.02% UVEA IRIS / CILIARY BODY CYSTS 6 0.02% 5 0.03% IRIS COLOBOMA 11 0.04% 6 0.03% PIGMENTARY UVEITIS 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2597 10.55% 2936 16.55% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 129 0.52% 129 0.73% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 55 0.22% 41 0.23% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 30 0.12% 32 0.18% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 335 1.36% 191 1.08% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.07% ANTERIOR CORTEX PUNCTATE* 32 0.13% 23 0.13% ANTERIOR CORTEX INTERMEDIATE* 31 0.13% 30 0.17% ANTERIOR CORTEX DIFFUSE* 11 0.04% 3 0.02% ANTERIOR CORTEX SUSPICIOUS 3 0.01% ANT. CORTEX PUNCT. SIGN. UNKNOWN 54 0.22% 39 0.22% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 18 0.07% POSTERIOR CORTEX PUNCTATE* 15 0.06% POSTERIOR CORTEX INTERMEDIATE* 50 0.20% 38 0.21% POSTERIOR CORTEX DIFFUSE* 7 0.03% 1 0.01% POSTERIOR CORTEX SUSPICIOUS 2 0.01% POST. CORTEX PUNCT. SIGN. UNKNOWN 6 0.02% 2 0.01% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 6 0.02% EQUATORIAL CORTEX PUNCTATE* 1 0.00% 1 0.01% EQUATORIAL CORTEX INTERMEDIATE* 14 0.06% 15 0.08% EQUATORIAL CORTEX DIFFUSE* 1 0.00% EQUATORIAL CORTEX SUSPICIOUS 1 0.00% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 6 0.02% 3 0.02% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 9 0.04%

COLLIE (ROUGH OR SMOOTH)

1991 - 1999 2000-2007 ANTERIOR SUTURES PUNCTATE* 15 0.06% 5 0.03% ANTERIOR SUTURES INTERMEDIATE* 20 0.08% 8 0.05% ANTERIOR SUTURES DIFFUSE* 1 0.00% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.04% 12 0.07% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.02% POSTERIOR SUTURES PUNCTATE* 8 0.03% 6 0.03% POSTERIOR SUTURES INTERMEDIATE* 13 0.05% 6 0.03% POSTERIOR SUTURES DIFFUSE* 1 0.00% POSTERIOR SUTURES SUSPICIOUS 1 0.00% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 8 0.03% 7 0.04% NUCLEUS (SIZE UNSPECIFIED)* 44 0.18% NUCLEUS PUNCTATE* 26 0.11% 37 0.21% NUCLEUS INTERMEDIATE* 53 0.22% 46 0.26% NUCLEUS DIFFUSE* 4 0.02% 3 0.02% NUCLEUS SUSPICIOUS 2 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 55 0.22% 65 0.37% ANTERIOR CAPSULE 7 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 6 0.02% ANTERIOR CAPSULE SUSPICIOUS 2 0.01% CAPSULAR PUNCTATE 6 0.02% 12 0.07% CAPSULAR INTERMEDIATE 12 0.07% CAPSULAR SIGN. UNKNOWN 4 0.02% 34 0.19% POSTERIOR CAPSULE 4 0.02% POSTERIOR CAPSULE SIGN. UNKNOWN 4 0.02% POSTERIOR CAPSULE SUSPICIOUS 2 0.01% GENERALIZED CATARACT* 8 0.03% 3 0.02% SUBLUXATION/LUXATION 4 0.02% 2 0.01% VITREOUS PERSISTENT HYALOID ARTERY 240 0.97% 101 0.57% PHPV/PTVL 12 0.05% 11 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 16 0.06% 14 0.08% DEGENERATION ANTERIOR CHAMBER 10.01% DEGENERATION SYNERESIS 30.02% FUNDUS RETINAL ATROPHY--GENERALIZED 44 0.18% 161 0.91% RETINAL ATROPHY--CENTRAL 2 0.01% RETINAL ATROPHY--SUSPICIOUS 43 0.17% 10 0.06% RETINAL DYSPLASIA FOCAL/FOLDS 1196 4.86% 1325 7.47% RETINAL DYSPLASIA GEOGRAPHIC 32 0.13% 18 0.10% RETINAL DYSPLASIA GENERALIZED/DETACHED 22 0.09% 26 0.15% CHOROIDAL HYPOPLASIA 16556 67.25% 11963 67.45% STAPHYLOMA / COLOBOMA 1375 5.59% 659 3.72% RETINAL DETACHMENT 441 1.79% 257 1.45% RETINAL HEMORRHAGE 72 0.29% 32 0.18% OPTIC NERVE COLOBOMA 2118 8.60% 1364 7.69% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 127 0.52% 4 0.02% OPTIC NERVE HYPOPLASIA 55 0.31% MICROPAPILLA 13 0.05% 56 0.32%

COLLIE (ROUGH OR SMOOTH)

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 291 1.18% 246 1.39% OTHER, NON -INHERITED 50 0.20% 183 1.03% NORMAL NORMAL 6611 26.86% 4760 26.84%

COONHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

B. Retinal dysplasia Not defined 2 Breeder option -folds

Description and Comments

A. Cataract

B. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Coonhound breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

COONHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF COONHOUND EXAMINED 174 173

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.58% EYELIDS ENTROPION 3 1.72% ECTROPION 3 1.72% DISTICHIASIS 2 1.15% 2 1.16% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.58% GLAND PROLAPSE 10.58% CORNEA CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 1.15% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.57% 4 2.31% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.57% 2 1.16% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 5.75% 6 3.47% ANTERIOR CORTEX PUNCTATE* 2 1.15% 1 0.58% ANTERIOR CORTEX INTERMEDIATE* 1 0.57% ANT. CORTEX PUNCT. SIGN. UNKNOWN 84.62% POSTERIOR CORTEX PUNCTATE* 1 0.57% POSTERIOR CORTEX INTERMEDIATE* 3 1.72% 2 1.16% ANTERIOR SUTURES INTERMEDIATE* 10.58% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.58% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 4.02% NUCLEUS PUNCTATE* 1 0.57% 1 0.58% NUCLEUS INTERMEDIATE* 3 1.72% NUCLEUS DIFFUSE* 1 0.57% NUCLEUS SUSPICIOUS 1 0.57% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 1.72% 6 3.47% CAPSULAR PUNCTATE 10.58% CAPSULAR SIGN. UNKNOWN 1 0.57% 6 3.47% GENERALIZED CATARACT* 21.16% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 2 1.15% 10 5.78% CHOROIDAL HYPOPLASIA 1 0.57% OTHER OTHER, NON -INHERITED 95.20% NORMAL NORMAL 143 82.18% 130 75.14%

COTON DE TULEAR

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4 Breeder option

B. Corneal dystrophy Not defined 2 Breeder option - epithelial/stromal

D. Persistent pupillary membranes - iris to iris Not defined 2 Breeder option - all other forms Not defined 2 NO

D. Cataract Not defined 2 NO

E. Vitreous Not defined 2 Breeder option degeneration

F. Retinal dysplasia Presumed 1,3 NO - folds/bullae autosomal recessive

G. Retinal atrophy Not defined 1 NO - generalized

H. Multifocal retinopathy Presumed 5 NO - cmr2 autosomal recessive

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Retinal dysplasia-folds, bullae

Linear, triangular, curved or curvilinear foci of retinal folding or bullae that may be single or multiple. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

A retinopathy has been observed in this breed which develops within the first 6 months presenting as multifocal bullous lesions. Once the lesions appear they do not progress or cause visual dysfunction.

G. Retinal atrophy-generalized (PRA)

H. Multifocal retinopathy

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Coton de Tulare breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. Grauwels, M (1999) Mulitifocal retinopathy in a population of Coton de Tular dogs. Proceedings of the International Society of Veterinary Ophthalmology / European College of Veterinary Ophthalmologists Meeting, Newsletter 11:10.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

COTON DE TULEAR

1991 - 1999 2000-2007 TOTAL NUMBER OF COTON DE TULEAR EXAMINED 428 2538

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.04% DRY EYE 10.04% EYELIDS ENTROPION 40.16% DISTICHIASIS 3 0.70% 18 0.71% ECTOPIC CILIA 10.04% THIRD EYELID GLAND PROLAPSE 1 0.23% 7 0.28% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 0.70% 24 0.95% DYSTROPHY--ENDOTHELIAL 10.04% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.04% UVEA IRIS COLOBOMA 20.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 2.80% 248 9.77% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.23% 7 0.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.23% 4 0.16% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.04% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 0.93% 35 1.38% ANTERIOR CORTEX PUNCTATE* 50.20% ANTERIOR CORTEX INTERMEDIATE* 2 0.47% 7 0.28% ANTERIOR CORTEX DIFFUSE* 20.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 1.17% 23 0.91% POSTERIOR CORTEX PUNCTATE* 30.12% POSTERIOR CORTEX INTERMEDIATE* 80.32% POSTERIOR CORTEX DIFFUSE* 20.08% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.47% 7 0.28% EQUATORIAL CORTEX PUNCTATE* 30.12% EQUATORIAL CORTEX INTERMEDIATE* 40.16% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 70.28% ANTERIOR SUTURES INTERMEDIATE* 20.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.04% POSTERIOR SUTURES PUNCTATE* 60.24% POSTERIOR SUTURES INTERMEDIATE* 10.04% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.70% 20 0.79% NUCLEUS PUNCTATE* 10.04% NUCLEUS INTERMEDIATE* 40.16% NUCLEUS DIFFUSE* 2 0.47% 1 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.23% 5 0.20% CAPSULAR PUNCTATE 20.08% CAPSULAR INTERMEDIATE 40.16% CAPSULAR SIGN. UNKNOWN 24 0.95% VITREOUS PERSISTENT HYALOID ARTERY 30.12%

COTON DE TULEAR

1991 - 1999 2000-2007 PHPV/PTVL 10.04% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.70% 17 0.67% DEGENERATION ANTERIOR CHAMBER 10.04% DEGENERATION SYNERESIS 30.12% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.23% 3 0.12% RETINAL ATROPHY--SUSPICIOUS 7 1.64% 7 0.28% RETINAL DYSPLASIA FOCAL/FOLDS 7 1.64% 4 0.16% RETINAL DYSPLASIA GEOGRAPHIC 2 0.47% 5 0.20% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.04% CHOROIDAL HYPOPLASIA 10.04% RETINAL DETACHMENT 1 0.23% OPTIC NERVE COLOBOMA 10.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.47% MICROPAPILLA 1 0.23% OTHER OTHER, INHERITED 11 2.57% 18 0.71% OTHER, NON -INHERITED 4 0.93% 124 4.89% NORMAL NORMAL 368 85.98% 2161 85.15%

CURLY-COATED RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

C. Persistent pupillary Not defined 4 Breeder option membrane -iris to iris

D. Cataract Not defined 1,2 NO

E. Vitreous Not defined 5 Breeder option degeneration

F. Choroidal hypoplasia Not defined 3 NO

G. Optic nerve Not defined 3 NO coloboma

H. Retinal dysplasia Not defined 3 Breeder option -folds

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membrane (PPM)

D. Cataract

In the Curly-coated retriever the following cataracts have been reported:

1. Anterior cortical subcapsular cataract: Anterior subcapsular striate cortical cataracts usually occur bilaterally, slowly progress and usually occur between 5-8 years of age.

2. Posterior subcapsular cataract: Posterior polar subcapsular opacities occur at 2-4 years of age and progress slowly.

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly".

G. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Curly- Coated Retriever breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39, 1976.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

CURLY-COATED RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF CURLY-COATED RETRIEVER EXAMINED 731 691

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.14% EYELIDS ENTROPION 5 0.68% 4 0.58% ECTROPION 1 0.14% DISTICHIASIS 46 6.29% 55 7.96% ECTOPIC CILIA 30.43% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 6 0.82% 3 0.43% DYSTROPHY--ENDOTHELIAL 1 0.14% UVEA IRIS / CILIARY BODY CYSTS 10.14% PIGMENTARY UVEITIS 10.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 20 2.74% 26 3.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.27% 1 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.55% 1 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.29% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 27 3.69% 24 3.47% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.68% ANTERIOR CORTEX PUNCTATE* 5 0.68% 3 0.43% ANTERIOR CORTEX INTERMEDIATE* 3 0.41% 6 0.87% ANTERIOR CORTEX SUSPICIOUS 1 0.14% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 0.55% 9 1.30% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.41% POSTERIOR CORTEX PUNCTATE* 6 0.82% 1 0.14% POSTERIOR CORTEX INTERMEDIATE* 3 0.41% 4 0.58% POST. CORTEX PUNCT. SIGN. UNKNOWN 71.01% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.27% EQUATORIAL CORTEX PUNCTATE* 1 0.14% 1 0.14% EQUATORIAL CORTEX INTERMEDIATE* 4 0.55% 5 0.72% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.41% 3 0.43% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.14% ANTERIOR SUTURES INTERMEDIATE* 10.14% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.14% 2 0.29% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.55% POSTERIOR SUTURES PUNCTATE* 1 0.14% 5 0.72% POSTERIOR SUTURES INTERMEDIATE* 20.29% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.14% 17 2.46% NUCLEUS INTERMEDIATE* 2 0.27% 1 0.14% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 0.55% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.14% ANTERIOR CAPSULE SUSPICIOUS 1 0.14% CAPSULAR PUNCTATE 10.14% CAPSULAR INTERMEDIATE 20.29% CAPSULAR SIGN. UNKNOWN 10 1.45%

CURLY-COATED RETRIEVER

1991 - 1999 2000-2007 POSTERIOR CAPSULE 3 0.41% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.27% SUBLUXATION/LUXATION 20.29% VITREOUS PERSISTENT HYALOID ARTERY 1 0.14% DEGENERATION (NO FURTHER SPECIFICATION) 12 1.74% DEGENERATION ANTERIOR CHAMBER 30.43% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.14% 2 0.29% RETINAL ATROPHY--SUSPICIOUS 4 0.55% 3 0.43% RETINAL DYSPLASIA FOCAL/FOLDS 8 1.09% 3 0.43% RETINAL DYSPLASIA GEOGRAPHIC 30.43% CHOROIDAL HYPOPLASIA 13 1.78% OPTIC NERVE COLOBOMA 10 1.37% 3 0.43% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.27% OTHER OTHER, INHERITED 11 1.50% 2 0.29% OTHER, NON -INHERITED 2 0.27% 23 3.33% NORMAL NORMAL 600 82.08% 563 81.48%

CZESKY TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 2,3 Breeder option - epithelial/stromal

Description and Comments

A. Distichiasis

B. Corneal Dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Czesky terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

2. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

CZESKY TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF CZESKY TERRIER EXAMINED 38 47

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 7 18.42% 9 19.15% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 2.63% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 7.89% 5 10.64% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 5.26% 1 2.13% ANTERIOR CORTEX PUNCTATE* 12.13% ANTERIOR CORTEX INTERMEDIATE* 1 2.63% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 2.63% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 2.63% CAPSULAR PUNCTATE 12.13% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 3 7.89% 4 8.51% RETINAL DETACHMENT 1 2.63% MICROPAPILLA 12.13% OTHER OTHER, NON -INHERITED 48.51% NORMAL NORMAL 23 60.53% 32 68.09%

DACHSHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia and Not defined 1-3 NO multiple ocular defects

B. Distichiasis Not defined 1 Breeder option

C. Dermoid Not defined 1,4 Breeder option

D. Chronic superficial Presumed 1,5 NO keratitis/pannus autosomal recessive

E. Punctate keratitis Not defined 1,21 NO

F. Corneal dystrophy- Not defined 1,7 Breeder option epithelial/stromal

G. Corneal dystrophy Not defined 1,6,7 NO - endothelial

H. Iris coloboma Not defined 12 NO

I. Persistent pupillary membranes - Iris to iris Not defined 12,14 Breeder option - Iris to cornea Not defined 14 NO

J. Uveodermatologic Not defined 8 NO syndrome

K. Cataract Not defined 1 NO

L. Persistent hyaloids Not defined 13,14 Breeder option artery

M. Retinal dysplasia Not defined 12,14 Breeder option - focal/folds

N. Retinal atrophy Not defined 1,9-11,15,19,22,23 NO - generalized

O. Coloboma/ Not defined 20 NO Staphyloma (Smooth standard only)

P. Optic nerve Not defined 1 NO coloboma

Q. Optic nerve Not defined 14 NO hypoplasia

R. Optic nerve Not defined 1,14 Breeder option micropapilla

S. Retinal degeneration Not defined 16,17,18 NO - day blindness

Description and Comments

A. Microphthalmia and multiple ocular anomalies

Microphthalmia is a congenital defect characterized by a small eye often with associated defects of the cornea, anterior chamber, lens and/or retina.

An association has been made between partial albinism, multiple ocular defects (especially microphthalmia) and deafness in a number of canine breeds including the Dachshund. From these reports it appears that a predominantly white hair coat is associated with a higher incidence of ocular defects.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Dermoid

A dermoid is a focal area of normal epidermal tissue (skin) that forms in an abnormal location (usually the cornea, conjunctiva or eyelid). The lesion generally causes discomfort to the affected animal.

D. Chronic superficial keratitis / Pannus

A bilateral disease of the cornea which usually starts as a grayish haze to the ventral or ventrolateral cornea, followed by the formation of a vascularized subepithelial growth that begins to spread toward the central cornea; pigmentation follows the vascularization. If severe, vision impairment occurs. Pannus may be associated with plasma cell infiltration of the nictitans.

E. Punctate keratitis

Focal circular rings usually affecting the central subepithelial and/or anterior portion of the cornea. There often is an associated dry eye with corneal erosions. The mode of inheritance is unknown.

F. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

G. Corneal dystrophy- endothelial

An abnormal loss of the inner lining of the cornea that causes progressive fluid retention (edema). With time the edema results in keratitis and decreased vision.

H. Iris coloboma

I. Persistent pupillary membranes (PPM)

J. Uveodermatologic syndrome

Uveodermatologic syndrome in the Dachshund bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune-mediated disease in which pigmented cells (melanocytes) in the eye and in the skin are destroyed by white blood cells (lymphocytes). The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. Adhesions between the iris and lens (posterior synechia) and the peripheral iris and cornea (peripheral anterior synechia) develop rapidly. Other complications include cataract development, retinal degeneration, retinal separation or detachment, optic disc atrophy and secondary glaucoma. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. Whitening of the hair (poliosis) and skin (vitiligo) may also be noted in advanced cases. The genetics of this condition are unclear, but some genetic predisposition is indicated by the higher prevalence of this disorder in Dachshund compared with other dog breeds. Affected dogs are generally young, ranging in age between 1 ½ to 4 years.

K. Cataract

L. Persistent hyaloid artery (PHA)

M. Retinal dysplasia-focal/folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined

N. Retinal atrophy-generalized

For DNA testing contact Dr. Gary Johnson - DNA Research, University of Missouri, 320 Connaway Hall, Columbia, MO 65211. Tel: Liz Hansen 573-884-3712. E-mail [email protected]. Instructions for submission of samples can be found at: http://www.caninegeneticdiseases.net/PRA/mainPRA.htm.

For DNA testing also contact: Animal Health Trust (UK): website: www.aht.org.uk.

O. Coloboma / staphyloma

P. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

Q. Optic nerve hypoplasia

Optic nerve hypoplasia refers to a congenital defect of the optic nerve which causes blindness and abnormal pupil response in the affected eye. May be difficult to differentiate between micropapilla and optic nerve hypoplasia on a routine (dilated) screening ophthalmoscopic exam.

R. Optic nerve micropapilla

Micropapilla refers to a small optic disc which is not associated with vision impairment. May be difficult to differentiate between micropapilla and optic nerve hypoplasia on a routine (dilated) screening ophthalmoscopic exam.

S. Retinal degeneration- day blindness (also called hemeralopia)

Selective degeneration of cone photoreceptors resulting in greater vision impairment in bright light.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991- 1998.

2. Sorsby A, Davey JB: Ocular associations of dappling (or merling) in the coat colour of dogs 1. Clinical and genetical data. J Genet 52:425, 1954.

3. Dausch O et al: Eye changes in the merle syndrome in the dachshund. Dtsch Tierorxtl Wschr 84:453, 1977.

4. Brandsch H, Schmidt V: Analysis of heredity for dermoid in the dog eye. Mh Vet- Med 37:305, 1982.

5. Brandsch H, Nicodem K: Heredity of keratitis in long-haired dachshunds. Mh Vet-Med 37:216, 1982.

6. Martin CL, Dice PF: Corneal endothelial dystrophy in the dog. J Am Anim Hosp Assoc 18:327, 1982.

7. Cooley, PL, Dice DF. Corneal dystrophy in the dog and cat. Vet Clin No Am Small An Pract 20:681, 1990.

8. Uveodermatological syndrome (Vogt-Koyanagi-Harada-like syndrome) with generalized depigmentation in a Dachshund. Vet Ophthalmol 1:47, 1998.

9. Priester WA: Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res 35:571, 1974.

10. Curtis R, Barnett KC: Progressive retinal atrophy in miniature longhaired dachshund dogs. Brit Vet J 149:71, 1993.

11. Turney C: Progressive retinal atrophy in the miniature longhaired dachshund: History, current work and future options. Proc BrAVO/ECVO/ESVO/ISVO p53, 2003.

12. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

13. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

14. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

15. Kotani T, Maehara S, Ito N, et al: Progressive Retinal Atrophy in 12 Miniature Dachshund dogs. Proc Am Coll Vet Ophth, p2, 2002.

16. Bjerkes E, Peiffer R: Day Blindness is Two Young Wirehaired Dachshund Siblings. Pro Europ Coll of Vet Visual Electro, 1:40, 2000.

17. Bjerkes E, Narfstrom K, et al: Hemeralopia in Wirehaired Dachshunds. Invest Ophthal Visual Sci 44: E-Abstract 2818, 2003

18. Ropstad EO, Bjerkas E, Narfstrom K: Clinical and Fundoscopic Signs of Early Onset Day Blindness (hemeralopia) in Wirehaired Dachshunds. ECVO Proceedings, Abstract 09, 2005.

19. Mellersh CS, Boursnell MEG, Pettitt L, et al: Canine RPGRIP1 mutation establishes cone- rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88 (2006), 293-301.

20. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

21. Claus BN: A genealogic survey of superficial punctuate keratitis in the population of Danish longhaired dachshunds. ECVO Proceedings, 2007.

22. Ropstad EO, Bjerkas E, Narfstrom K: Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund. Vet Ophthalmol 10:69-75, 2007.

23. Turney C, Chong NHV, Alexander RA, et al: Pathological and electrophysiological features of a canine cone-rod dystrophy in the Miniature Longhaired Dachshund. Invest Ophth & Vis Sci 48(9):4240-4249.

DACHSHUND, LONGHAIR MINIATURE

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, LONGHAIR MINIATURE 489 342 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.20% 4 1.17% DRY EYE 1 0.20% EYELIDS DISTICHIASIS 37 7.57% 43 12.57% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.20% 2 0.58% DYSTROPHY--ENDOTHELIAL 10.29% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.20% UVEA IRIS / CILIARY BODY CYSTS 20.58% IRIS COLOBOMA 4 0.82% 1 0.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 1.64% 20 5.85% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 5 1.02% 2 0.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.29% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 29 5.93% 7 2.05% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 9 1.84% ANTERIOR CORTEX PUNCTATE* 6 1.23% ANTERIOR CORTEX INTERMEDIATE* 7 1.43% 2 0.58% ANTERIOR CORTEX DIFFUSE* 10.29% ANTERIOR CORTEX SUSPICIOUS 1 0.20% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 1.02% 5 1.46% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.41% POSTERIOR CORTEX PUNCTATE* 1 0.20% POSTERIOR CORTEX DIFFUSE* 10.29% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 2 0.58% EQUATORIAL CORTEX PUNCTATE* 10.29% EQUATORIAL CORTEX INTERMEDIATE* 20.58% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.41% 4 1.17% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.29% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.82% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.41% POSTERIOR SUTURES PUNCTATE* 1 0.20% POSTERIOR SUTURES INTERMEDIATE* 20.58% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.61% 1 0.29% NUCLEUS (SIZE UNSPECIFIED)* 1 0.20% NUCLEUS INTERMEDIATE* 1 0.20% NUCLEUS DIFFUSE* 10.29% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.20% 2 0.58% CAPSULAR SIGN. UNKNOWN 2 0.41% 9 2.63% GENERALIZED CATARACT* 1 0.20% VITREOUS PERSISTENT HYALOID ARTERY 4 0.82% 3 0.88% PHPV/PTVL 1 0.20%

DACHSHUND, LONGHAIR MINIATURE

1991 - 1999 2000-2007 DEGENERATION (NO FURTHER SPECIFICATION) 1 0.20% 2 0.58% DEGENERATION ANTERIOR CHAMBER 10.29% DEGENERATION SYNERESIS 20.58% FUNDUS RETINAL ATROPHY--GENERALIZED 5 1.02% 4 1.17% RETINAL ATROPHY--SUSPICIOUS 11 2.25% 4 1.17% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.41% 3 0.88% RETINAL DYSPLASIA GEOGRAPHIC 10.29% STAPHYLOMA / COLOBOMA 3 0.61% RETINAL HEMORRHAGE 10.29% OPTIC NERVE COLOBOMA 4 0.82% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.61% OPTIC NERVE HYPOPLASIA 20.58% MICROPAPILLA 10.29% OTHER OTHER, INHERITED 5 1.02% 1 0.29% OTHER, NON -INHERITED 25 7.31% NORMAL NORMAL 374 76.48% 249 72.81%

DACHSHUND, LONGHAIR STANDARD

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, LONGHAIR STANDARD 761 566 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 3 0.39% DRY EYE 1 0.13% GLAUCOMA 1 0.13% EYELIDS ENTROPION 4 0.53% DISTICHIASIS 37 4.86% 44 7.77% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 0.66% 3 0.53% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.13% UVEA IRIS COLOBOMA 1 0.13% 3 0.53% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11 1.45% 17 3.00% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.13% 1 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.39% 1 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.26% 1 0.18% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 31 4.07% 12 2.12% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.39% ANTERIOR CORTEX PUNCTATE* 3 0.39% 2 0.35% ANTERIOR CORTEX INTERMEDIATE* 3 0.39% 7 1.24% ANTERIOR CORTEX DIFFUSE* 1 0.13% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 0.92% 8 1.41% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.39% POSTERIOR CORTEX PUNCTATE* 5 0.66% POSTERIOR CORTEX INTERMEDIATE* 3 0.39% 4 0.71% POSTERIOR CORTEX DIFFUSE* 1 0.13% EQUATORIAL CORTEX PUNCTATE* 3 0.39% EQUATORIAL CORTEX INTERMEDIATE* 3 0.39% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.13% 2 0.35% ANTERIOR SUTURES PUNCTATE* 1 0.13% ANTERIOR SUTURES INTERMEDIATE* 2 0.26% POSTERIOR SUTURES PUNCTATE* 10.18% POSTERIOR SUTURES INTERMEDIATE* 2 0.26% 1 0.18% POSTERIOR SUTURES SUSPICIOUS 1 0.13% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.39% 1 0.18% NUCLEUS (SIZE UNSPECIFIED)* 2 0.26% NUCLEUS PUNCTATE* 1 0.13% 1 0.18% NUCLEUS INTERMEDIATE* 10.18% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.39% ANTERIOR CAPSULE 1 0.13% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.13% CAPSULAR PUNCTATE 2 0.26% 1 0.18% CAPSULAR INTERMEDIATE 10.18% CAPSULAR SIGN. UNKNOWN 2 0.26% 13 2.30% POSTERIOR CAPSULE 2 0.26%

DACHSHUND, LONGHAIR STANDARD

1991 - 1999 2000-2007 POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.13% GENERALIZED CATARACT* 3 0.39% 1 0.18% SUBLUXATION/LUXATION 10.18% VITREOUS PERSISTENT HYALOID ARTERY 2 0.26% 1 0.18% PHPV/PTVL 20.35% DEGENERATION (NO FURTHER SPECIFICATION) 4 0.53% FUNDUS RETINAL ATROPHY--GENERALIZED 18 2.37% 6 1.06% RETINAL ATROPHY--SUSPICIOUS 11 1.45% 8 1.41% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.26% 6 1.06% RETINAL DYSPLASIA GEOGRAPHIC 1 0.13% 1 0.18% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.13% RETINAL DETACHMENT 1 0.13% 1 0.18% OPTIC NERVE COLOBOMA 10 1.31% 3 0.53% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 0.66% MICROPAPILLA 1 0.13% 1 0.18% OTHER OTHER, INHERITED 14 1.84% OTHER, NON -INHERITED 6 0.79% 32 5.65% NORMAL NORMAL 605 79.50% 448 79.15%

DACHSHUND, SMOOTH MINIATURE

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, SMOOTH MINIATURE 82 131 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 21.53% EYELIDS DISTICHIASIS 1 1.22% THIRD EYELID GLAND PROLAPSE 1 1.22% UVEA IRIS COLOBOMA 43.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 3.66% 9 6.87% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 2.44% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 1.22% 1 0.76% ANTERIOR CORTEX INTERMEDIATE* 10.76% ANTERIOR CORTEX SUSPICIOUS 1 1.22% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.76% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.22% EQUATORIAL CORTEX INTERMEDIATE* 10.76% NUCLEUS SUSPICIOUS 1 1.22% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.22% CAPSULAR PUNCTATE 10.76% CAPSULAR INTERMEDIATE 10.76% CAPSULAR SIGN. UNKNOWN 43.05% GENERALIZED SUSPICIOUS 1 1.22% VITREOUS PERSISTENT HYALOID ARTERY 1 1.22% 1 0.76% DEGENERATION (NO FURTHER SPECIFICATION) 1 1.22% FUNDUS RETINAL ATROPHY--GENERALIZED 1 1.22% 1 0.76% RETINAL ATROPHY--SUSPICIOUS 1 1.22% RETINAL DYSPLASIA FOCAL/FOLDS 2 2.44% 2 1.53% STAPHYLOMA / COLOBOMA 21.53% OPTIC NERVE HYPOPLASIA 10.76% OTHER OTHER, INHERITED 3 3.66% 1 0.76% OTHER, NON -INHERITED 16 12.21% NORMAL NORMAL 66 80.49% 103 78.63%

DACHSHUND, SMOOTH STANDARD

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, SMOOTH STANDARD 611 595 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.16% 6 1.01% EYELIDS ENTROPION 1 0.16% DISTICHIASIS 13 2.13% 13 2.18% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.16% 7 1.18% UVEA IRIS COLOBOMA 40.67% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 13 2.13% 27 4.54% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 61.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 50.84% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 19 3.11% 20 3.36% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.49% ANTERIOR CORTEX PUNCTATE* 1 0.16% 4 0.67% ANTERIOR CORTEX INTERMEDIATE* 4 0.65% 7 1.18% ANTERIOR CORTEX DIFFUSE* 1 0.16% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.33% 2 0.34% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.16% POSTERIOR CORTEX PUNCTATE* 10.17% POSTERIOR CORTEX INTERMEDIATE* 1 0.16% 2 0.34% POSTERIOR CORTEX DIFFUSE* 3 0.49% 1 0.17% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.16% 1 0.17% EQUATORIAL CORTEX PUNCTATE* 2 0.33% EQUATORIAL CORTEX INTERMEDIATE* 2 0.33% 1 0.17% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.65% 2 0.34% POSTERIOR SUTURES PUNCTATE* 10.17% POSTERIOR SUTURES INTERMEDIATE* 1 0.16% 1 0.17% POSTERIOR SUTURES DIFFUSE* 1 0.16% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30.50% NUCLEUS INTERMEDIATE* 1 0.16% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.16% 5 0.84% CAPSULAR PUNCTATE 2 0.33% 1 0.17% CAPSULAR INTERMEDIATE 1 0.16% 1 0.17% CAPSULAR DIFFUSE 10.17% CAPSULAR SIGN. UNKNOWN 14 2.29% 21 3.53% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.33% GENERALIZED CATARACT* 5 0.82% 5 0.84% SUBLUXATION/LUXATION 1 0.16% VITREOUS PERSISTENT HYALOID ARTERY 4 0.65% 6 1.01% PHPV/PTVL 30.50% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.49% 3 0.50%

DACHSHUND, SMOOTH STANDARD

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 5 0.82% 2 0.34% RETINAL ATROPHY--SUSPICIOUS 5 0.82% 1 0.17% RETINAL DYSPLASIA FOCAL/FOLDS 6 0.98% 8 1.34% RETINAL DYSPLASIA GEOGRAPHIC 20.34% CHOROIDAL HYPOPLASIA 30.50% STAPHYLOMA / COLOBOMA 1 0.16% 6 1.01% RETINAL DETACHMENT 1 0.16% 1 0.17% OPTIC NERVE COLOBOMA 1 0.16% 3 0.50% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 12 1.96% OPTIC NERVE HYPOPLASIA 50.84% MICROPAPILLA 50.84% OTHER OTHER, INHERITED 9 1.47% 3 0.50% OTHER, NON -INHERITED 2 0.33% 38 6.39% NORMAL NORMAL 506 82.82% 487 81.85%

DACHSHUND, WIREHAIR STANDARD

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, WIREHAIR STANDARD 376 387 EXAMINED Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 0.27% DISTICHIASIS 1 0.27% 9 2.33% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.26% DYSTROPHY--ENDOTHELIAL 2 0.53% 1 0.26% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 9 2.39% 28 7.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.27% 1 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.80% 8 2.07% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.27% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 3.46% 13 3.36% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.80% ANTERIOR CORTEX PUNCTATE* 1 0.27% 1 0.26% ANTERIOR CORTEX INTERMEDIATE* 1 0.27% 3 0.78% ANTERIOR CORTEX DIFFUSE* 2 0.53% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.80% 4 1.03% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.27% POSTERIOR CORTEX PUNCTATE* 2 0.53% 1 0.26% POSTERIOR CORTEX INTERMEDIATE* 1 0.27% 3 0.78% POSTERIOR CORTEX DIFFUSE* 1 0.27% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.27% 2 0.52% EQUATORIAL CORTEX PUNCTATE* 1 0.27% 1 0.26% EQUATORIAL CORTEX INTERMEDIATE* 30.78% EQUATORIAL CORTEX DIFFUSE* 1 0.27% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.53% POSTERIOR SUTURES PUNCTATE* 1 0.27% POSTERIOR SUTURES INTERMEDIATE* 1 0.27% 4 1.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.80% 2 0.52% NUCLEUS INTERMEDIATE* 10.26% NUCLEUS DIFFUSE* 10.26% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.27% 1 0.26% ANTERIOR CAPSULE 1 0.27% CAPSULAR PUNCTATE 10.26% CAPSULAR INTERMEDIATE 10.26% CAPSULAR SIGN. UNKNOWN 61.55% POSTERIOR CAPSULE 1 0.27% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.27% GENERALIZED CATARACT* 2 0.53% SUBLUXATION/LUXATION 30.78% VITREOUS PERSISTENT HYALOID ARTERY 4 1.06% 9 2.33% PHPV/PTVL 1 0.27% DEGENERATION (NO FURTHER SPECIFICATION) 20.52% DEGENERATION SYNERESIS 10.26%

DACHSHUND, WIREHAIR STANDARD

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.53% 4 1.03% RETINAL ATROPHY--SUSPICIOUS 4 1.06% 1 0.26% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.80% 4 1.03% RETINAL DYSPLASIA GEOGRAPHIC 10.26% OPTIC NERVE COLOBOMA 10.26% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.80% OPTIC NERVE HYPOPLASIA 10.26% OTHER OTHER, INHERITED 2 0.53% 1 0.26% OTHER, NON -INHERITED 1 0.27% 35 9.04% NORMAL NORMAL 328 87.23% 316 81.65%

DACHSHUND, WIREHAIR MINIATURE

1991 - 1999 2000-2007 TOTAL NUMBER OF DACHSHUND, WIREHAIR MINIATURE 70 54 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 11.85% EYELIDS DISTICHIASIS 2 2.86% 1 1.85% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 23.70% UVEA IRIS COLOBOMA 47.41% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 1.43% 6 11.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 1.43% 1 1.85% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 5.71% 1 1.85% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.43% ANTERIOR CORTEX INTERMEDIATE* 2 2.86% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 1.43% POSTERIOR CORTEX INTERMEDIATE* 2 2.86% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.43% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 1.43% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 1.43% ANTERIOR SUTURES PUNCTATE* 1 1.43% POSTERIOR SUTURES INTERMEDIATE* 2 2.86% NUCLEUS INTERMEDIATE* 11.85% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.43% CAPSULAR INTERMEDIATE 11.85% CAPSULAR SIGN. UNKNOWN 23.70% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 2 2.86% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 11.85% CHOROIDAL HYPOPLASIA 11.85% OTHER OTHER, INHERITED 1 1.43% 4 7.41% OTHER, NON -INHERITED 35.56% NORMAL NORMAL 59 84.29% 40 74.07%

DALMATIAN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1-3 NO

B. Entropion Not defined 1,2 Breeder option

C. Dermoid Not defined 1,2 Breeder option

D. Distichiasis Not defined 11 Breeder option

E. Corneal dystrophy Not defined 11 Breeder option - epithelial/stromal

F. Iris Hypoplasia / Sphincter Dysplasia Not defined 10 Breeder option

G. Iris coloboma Not defined 12 NO

H. Persistent pupillary Not defined 12 Breeder option membranes - iris to iris

I. Cataract Not defined 1,2 NO

J. Retinal dysplasia Not defined 12 Breeder option - folds

K. Ceroid- Presumed 4-9 NO lipofuscinosis autosomal recessive

It is recommended that this breed be examined prior to pharmacological dilation to best facilitate identification of iris hypoplasia/sphincter dysplasia in this breed.

Description and Comments

A. Glaucoma

Glaucoma is characterized by an elevation of intraocular pressure which, when sustained, causes intraocular damage resulting in blindness. The elevated intraocular pressure occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of the intraocular pressure (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In the Dalmatian, entropion normally involves the lower lid.

C. Dermoid

A patch of skin, usually located on the cornea; its presence usually causes ocular irritation and if large can affect vision.

This abnormal development of the cornea has been observed so extensively in some Dalmatian dogs that little corneal tissue remains visible. It has been observed both unilaterally and bilaterally and in more than one dog in a litter on occasion. Surgical correction in most patients helps to return comfort and improve vision.

D. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

E. Corneal dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

F. Iris hypoplasia / Iris sphincter dysplasia (ISD)

Defective development of the iris, or part of the iris, resulting in an immature state. ISD is the result of poorly developed iris sphincter muscles. The pupils of dogs with ISD do not properly contract in bright light. Dogs usually are uncomfortable and often squint in sunlight. The disorder exposes the interior of the eye to ultraviolet light that may potentially cause serious vision problems, such as cataracts or retinal damage, as dogs age.

G. Iris coloboma

H. Persistent pupillary membranes (PPM)

I. Cataract

J. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

K. Ceroid lipofuscinosis

A systemic metabolic disorder that affects the retina and retinal pigment epithelium with accumulation of lipopigments resulting in retinal degeneration. In Dalmatians, the age of onset is approximately 6 months.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991- 1998.

2. Hodgman SF: Abnormalities and defects in pedigree dogs I. An investigation into the existence of abnormalities in the British Isles. J Small Anim Pract 4:447, 1963.

3. Slater MR, Erb HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Am Vet Med Assoc 188:1028, 1986.

4. Goebel HH, Kohnecke B, Koppang N: Ultrastructural studies on the retina in human and canine neuronal ceroid-lipofuscinosis and other lysosomal disorders. In Maumenee IE and Berman ER (eds): Genetic Eye Diseases: Retinitis Pigmentosa and Other Inherited Eye Disorders, New York, Alan R. Liss, pp.241-253, 1982.

5. Goebel, HH, Dahme, E: Neuronal ceroid lipofuscinosis in the dalmatian dog. Act Neurolopathol 68:114, 1985.

6. Goebel, HH, Dahme, E: Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the Dalmatian dog. Acta Neuropathol 68:224, 1985.

7. Goebel, HH, Dahme, E: Ultrastructure of retinal pigment epithelial and neural cells in the neuronal ceroid-lipofuscinosis affected Dalmatian dog. Retina 6:179, 1986. Goebel, HH,

8. Dahme, E: Goebel, HH, Bilzer T, Dahme E, Malkasch F: Morphological studies in canine (Dalmatian) neuronal ceroid lipofuscinosis. Am J Med Gen Suppl 5:127, 1988.

9. Jolly RD, Palmer DN, Studdert VP, et al: Canine ceroid-lipofuscinoses: A review and classification. J Small Anim Pract 35:299, 1994.

10. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

11. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003- 2004.

12. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001- 2005.

DALMATIAN

1991 - 1999 2000-2007 TOTAL NUMBER OF DALMATIAN EXAMINED 454 937

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.11% EYELIDS ENTROPION 3 0.66% ECTROPION 10.11% DISTICHIASIS 8 1.76% 17 1.81% ECTOPIC CILIA 1 0.22% THIRD EYELID GLAND PROLAPSE 10.11% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.22% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10 2.20% 20 2.13% DYSTROPHY--ENDOTHELIAL 2 0.44% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.11% UVEA IRIS / CILIARY BODY CYSTS 20.21% IRIS COLOBOMA 11 1.17% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 21 2.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.88% 6 0.64% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.66% 1 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.11% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 7 1.54% 22 2.35% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.22% ANTERIOR CORTEX PUNCTATE* 1 0.22% 1 0.11% ANTERIOR CORTEX INTERMEDIATE* 3 0.66% 7 0.75% ANTERIOR CORTEX DIFFUSE* 1 0.22% 2 0.21% ANTERIOR CORTEX SUSPICIOUS 1 0.22% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.66% 7 0.75% POSTERIOR CORTEX PUNCTATE* 20.21% POSTERIOR CORTEX INTERMEDIATE* 1 0.22% 6 0.64% POSTERIOR CORTEX DIFFUSE* 1 0.22% 1 0.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 20.21% EQUATORIAL CORTEX PUNCTATE* 20.21% EQUATORIAL CORTEX INTERMEDIATE* 1 0.22% 6 0.64% EQUATORIAL CORTEX DIFFUSE* 10.11% EQUATORIAL CORTEX SUSPICIOUS 1 0.22% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.11% ANTERIOR SUTURES INTERMEDIATE* 30.32% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.11% POSTERIOR SUTURES INTERMEDIATE* 10.11% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.11% NUCLEUS PUNCTATE* 20.21% NUCLEUS INTERMEDIATE* 20.21%

DALMATIAN

1991 - 1999 2000-2007 ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.22% CAPSULAR PUNCTATE 10.11% CAPSULAR INTERMEDIATE 20.21% CAPSULAR SIGN. UNKNOWN 2 0.44% 5 0.53% SUBLUXATION/LUXATION 40.43% VITREOUS PHPV/PTVL 20.21% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.22% 4 0.43% DEGENERATION ANTERIOR CHAMBER 20.21% DEGENERATION SYNERESIS 30.32% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.22% 1 0.11% RETINAL ATROPHY--SUSPICIOUS 20.21% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.22% 6 0.64% CHOROIDAL HYPOPLASIA 1 0.22% RETINAL DETACHMENT 1 0.22% RETINAL HEMORRHAGE 10.11% OTHER OTHER, INHERITED 23 5.07% 50 5.34% OTHER, NON -INHERITED 2 0.44% 76 8.11% NORMAL NORMAL 383 84.36% 773 82.50%

DANDIE DINMONT

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes iris to iris Not defined 1,2 Breeder option all other forms Not defined 2 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Dandie dinmont breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

DANDIE DINMONT

1991 - 1999 2000-2007 TOTAL NUMBER OF DANDIE DINMONT EXAMINED 87 64

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 11.56% GLAUCOMA 1 1.15% EYELIDS DISTICHIASIS 2 2.30% 4 6.25% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 2.30% 1 1.56% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 9 10.34% 11 17.19% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 1.15% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 4.60% 4 6.25% ANTERIOR CORTEX INTERMEDIATE* 1 1.15% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 6.90% 1 1.56% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.15% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 2.30% POSTERIOR SUTURES PUNCTATE* 11.56% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 1.15% 2 3.13% NUCLEUS (SIZE UNSPECIFIED)* 1 1.15% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.15% ANTERIOR CAPSULE 1 1.15% CAPSULAR PUNCTATE 11.56% CAPSULAR SIGN. UNKNOWN 46.25% POSTERIOR CAPSULE 1 1.15% GENERALIZED CATARACT* 2 2.30% 3 4.69% SUBLUXATION/LUXATION 11.56% VITREOUS PERSISTENT HYALOID ARTERY 2 2.30% 1 1.56% OTHER OTHER, NON -INHERITED 1 1.15% 4 6.25% NORMAL NORMAL 58 66.67% 44 68.75%

DOBERMAN PINSCHER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Not defined 1,2,4-6 NO multiple ocular defects

B. Distichiasis Not defined 1 Breeder option

C. Persistent pupillary Membranes iris to iris Not defined 1,15 Breeder option iris to lens Not defined 15 NO all other forms Not defined 15 NO

D. Cataract Not defined 1 NO

E. Persistent Presumed 1,3,7-14 NO hyperplastic primary dominant/ vitreous/Persistent incomplete hyperplastic tunica penetrance vasculosa lentis (PHPV/PHTVL)

F. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Microphthalmia with multiple ocular defects

Microphthalmia is a congenital defect characterized by a small eye often associated with defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina (retinal dysplasia). Note that this syndrome is distinct from E. PHPV/PHTVL which may also be associated with microphthalmia.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time. It is difficult to make a strong recommendation with regards to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded and breeding discretion is advised.

C. Persistent pupillary membranes (PPM)

D. Cataract

Cataracts have been infrequently observed in the Doberman Pinscher and there is no specific location attributed to cataracts within the Doberman lens. Most cataracts are bilateral, usually observed within the first two years of life, and may cause significant vision loss.

E. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

The condition in the Doberman includes a spectrum of malformations ranging from spots of pigment on the posterior surface of the lens to posterior lenticonus, cataract and a dense fibrous plaque on the posterior surface of the lens. In the more severe forms, partial or complete vision impairment occurs. PHPV has been extensively studied in the Doberman in Europe. This disorder has been observed occasionally in the Doberman in the United States.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991- 1998.

2. Arnvjerg J and Jensen OA: Spontaneous microphthalmia in two Doberman puppies with anterior chamber cleavage syndrome. J Am Anim Hosp Assoc 18:481, 1982.

3. van der Linde-Sipman JS, Staades FC, se Wolff-Rouen-daal D: Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in the Doberman pinscher: Pathologic aspects. J Am Anim Hosp Assoc 19:791, 1983.

4. Peiffer RL, Fischer CA: Microphthalmia, retinal dysplasia and anterior segment dysgenesis in a litter of Doberman pinscher dogs. J Am Vet Med Assoc 183:875, 1983.

5. Bergsjo T et al: Congenital blindness with developmental anomalies, including retinal dysplasia, in Doberman Pinscher dogs. J Am Vet Med Assoc 184:1383, 1984.

6. Lewis DG, Kelly DF, Sansom J: Congenital microphthalmia and other developmental ocular anomalies in the Doberman. J Small Anim Pract 27:559, 1986.

7. Stades FC: Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous (PHTVL/PHPV) in ninety closely related Pinschers. J Am Anim Hosp Assoc 16:739, 1980.

8. Stades FC: Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in Doberman Pinschers: Techniques and results of surgery. J Am Anim Hosp Assoc 19:393, 1983.

9. Stades FC: Persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in Doberman Pinschers: Genetic aspects. J Am Anim Hosp Assoc 19:957, 1983.

10. Boeve MH, van der Linde-Sipman JS, Stades FC: Early morphogenesis of persistent hyperplastic tunica vasculosa lentis and primary vitreous (PHTVL/PHPV)- the dog as an ontogenetic model. Invest Ophthalmol Vis Sci 29:1076, 1988.

11. Boeve MH, van der Linde-Sipman JS, Stades FC: Early morphogenesis of persistent hyperplastic tunica vasculosa lentis and primary vitreous- a transmission electron microscopic study. Invest Ophthalmol Vis Sci 31:1886, 1990.

12. Stades FC, Boeve MH, vanden Brom WE, van der Linde-Sipman JS: The incidence of PHTVL/PHPV in Dobermans and the results of breeding rules. Vet Quarterly 13:24, 1991.

13. Anderson DE, et al: The incidence of PHTVL/PHPV in Dobermans and the results of breeding. J Hered 82:21, 1991.

14. Boeve MH, Stades FC, et al: Persistent hyperplastic tunica vasculosa lentis and primary vitreous (PHTVL/PHPV) in the dog: A comparative review. Prog Vet Comp Ophthalmol 2:163, 1992.

15. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

DOBERMAN PINSCHER

1991 - 1999 2000-2007 TOTAL NUMBER OF DOBERMAN PINSCHER EXAMINED 1943 1722

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 0.21% EYELIDS ENTROPION 3 0.15% 1 0.06% ECTROPION 10.06% DISTICHIASIS 33 1.70% 29 1.68% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.15% 1 0.06% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 0.26% 2 0.12% DYSTROPHY--ENDOTHELIAL 30.17% UVEA IRIS / CILIARY BODY CYSTS 1 0.05% 3 0.17% IRIS COLOBOMA 1 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 44 2.26% 34 1.97% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 17 0.87% 14 0.81% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.26% 2 0.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 3 0.15% 1 0.06% ENDOTHELIAL PIGMENT/NO PPM 10.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 43 2.21% 29 1.68% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.21% ANTERIOR CORTEX PUNCTATE* 9 0.46% 1 0.06% ANTERIOR CORTEX INTERMEDIATE* 3 0.15% 3 0.17% ANTERIOR CORTEX DIFFUSE* 10.06% ANTERIOR CORTEX SUSPICIOUS 2 0.10% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 0.31% 10 0.58% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.36% POSTERIOR CORTEX PUNCTATE* 2 0.10% 1 0.06% POSTERIOR CORTEX INTERMEDIATE* 6 0.31% 8 0.46% POSTERIOR CORTEX DIFFUSE* 1 0.05% 1 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 5 0.26% 9 0.52% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.10% EQUATORIAL CORTEX INTERMEDIATE* 4 0.21% 2 0.12% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.21% 3 0.17% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.05% ANTERIOR SUTURES PUNCTATE* 1 0.05% 1 0.06% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.05% 1 0.06% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.05% POSTERIOR SUTURES PUNCTATE* 1 0.05% 7 0.41% POSTERIOR SUTURES INTERMEDIATE* 1 0.05% 5 0.29% POSTERIOR SUTURES DIFFUSE* 2 0.10% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 9 0.46% 30 1.74% NUCLEUS (SIZE UNSPECIFIED)* 8 0.41% NUCLEUS PUNCTATE* 2 0.10% NUCLEUS INTERMEDIATE* 4 0.21% 5 0.29%

DOBERMAN PINSCHER

1991 - 1999 2000-2007 NUCLEUS PUNCTATE SIGN. UNKNOWN 11 0.57% 11 0.64% ANTERIOR CAPSULE 5 0.26% ANTERIOR CAPSULE SIGN. UNKNOWN 5 0.26% ANTERIOR CAPSULE SUSPICIOUS 3 0.15% CAPSULAR PUNCTATE 1 0.05% 10 0.58% CAPSULAR INTERMEDIATE 80.46% CAPSULAR DIFFUSE 20.12% CAPSULAR SIGN. UNKNOWN 18 0.93% 76 4.41% POSTERIOR CAPSULE 1 0.05% POSTERIOR CAPSULE SIGN. UNKNOWN 4 0.21% GENERALIZED CATARACT* 4 0.21% SUBLUXATION/LUXATION 1 0.05% 1 0.06% VITREOUS PERSISTENT HYALOID ARTERY 12 0.62% 3 0.17% PHPV/PTVL 9 0.46% 10 0.58% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.10% 2 0.12% DEGENERATION SYNERESIS 10.06% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.10% 4 0.23% RETINAL ATROPHY--SUSPICIOUS 3 0.15% 3 0.17% RETINAL DYSPLASIA FOCAL/FOLDS 29 1.49% 45 2.61% RETINAL DYSPLASIA GEOGRAPHIC 2 0.10% 7 0.41% CHOROIDAL HYPOPLASIA 2 0.10% STAPHYLOMA / COLOBOMA 1 0.05% RETINAL DETACHMENT 2 0.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.10% OTHER OTHER, INHERITED 17 0.87% 25 1.45% OTHER, NON -INHERITED 9 0.46% 131 7.61% NORMAL NORMAL 1691 87.03% 1429 82.98%

DOGUE DE BORDEAUX

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Ectropion Not defined 2 Breeder option

B. Distichiasis Not defined 1 Breeder option

C. Persistent pupillary Not defined 3 Breeder option membranes - iris to iris

D. Cataract Not defined 1 NO

E. Multifocal retinopathy Autosomal * - cmr1 recessive

* A mutation-based DNA test is available.

Description and Comments

A. Ectropion

B. Distichiasis

C. Persistent pupillary membranes (PPM)

D. Cataract

Nuclear and punctate cataracts have been reported in the Dogue De Bordeaux.

I. Multifocal retinopathy

References

There are no references providing detailed descriptions of hereditary conditions of the Dogue de Bordeaux breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

DOGUE DE BORDEAUX

1991 - 1999 2000-2007 TOTAL NUMBER OF DOGUE DE BORDEAUX EXAMINED 5 133

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 20.00% 1 0.75% ECTROPION 20 15.04% DISTICHIASIS 11 8.27% EURY/MACRO BLEPHARON 21.50% THIRD EYELID GLAND PROLAPSE 10.75% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 21.50% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 86.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.75% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 32.26% NUCLEUS PUNCTATE* 32.26% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.75% CAPSULAR SIGN. UNKNOWN 10.75% VITREOUS PERSISTENT HYALOID ARTERY 10.75% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 20.00% 3 2.26% OTHER OTHER, INHERITED 21.50% OTHER, NON -INHERITED 86.02% NORMAL NORMAL 3 60.00% 95 71.43%

ENGLISH COCKER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Keratoconjunctivitis Not defined 13 Breeder option Sicca (dry eye)

B. Distichiasis Not defined 1 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Imperforate Not defined 1 Breeder option lacrimal punctum

E. Corneal dystrophy- Not defined 11 Breeder option epithelial/stromal

F. Persistent pupillary membranes - iris to iris Not defined 1,11 Breeder option - all other forms Not defined 11 NO

G. Glaucoma Not defined 1-3 NO

H. Cataract Not defined 1,4-5 NO

I. Retinal dysplasia Presumed 1-3,12 Breeder option - folds autosomal recessive

J. Retinal atrophy Autosomal 1,6-9,14 NO - generalized (prcd) recessive

K. Central progressive Not defined 10 NO retinal atrophy

Description and Comments

A. Keratoconjunctivitis sicca (KCS) / dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Ectropion

A conformational defect resulting in eversion of the eyelids which may cause ocular irritation. It is likely that ectropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

D. Imperforate lacrimal punctum

E. Corneal dystrophy- epithelial/stromal

F. Persistent pupillary membranes (PPM)

In the English Cocker Spaniel, this is a particularly serious problem as the majority of ppm’s identified on routine screening examination bridge from the iris to the cornea and are associated with corneal opacities which may result in vision impairment.

G. Glaucoma

Glaucoma in the English cocker spaniel is recognized in England. The frequency and significance of this disease in the breed in the United States is not known, but is probably low.

H. Cataract

Congenital cataracts have been reported in red cocker spaniels, presumably English cocker spaniels, in Denmark. The cataracts affected the anterior capsule; in some cases the cortex and/or nucleus were opaque. Associated findings in some dogs were persistent pupillary membrane (PPM) and/or microphthalmia. It is likely that these cataracts are part of a syndrome characterized by multiple congenital ocular anomalies. The condition is familial, but a specific mode of inheritance has not been defined.

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

J. Retinal atrophy-generalized

This photoreceptor degeneration is characterized by slow death of visual cells following their normal development. The disease begins clinically with signs of night blindness followed by day blindness. Early fundus abnormalities usually appear after 4 years of age. The ERG (electroretinogram) shows marked functional abnormalities indicative of a progressive rod- cone degeneration after 18 months of age.

Studies have shown that PRA in the English cocker spaniel is inherited as autosomal recessive. The mutation is allelic to that present in miniature poodles , Portuguese water dog, Labrador retriever and American cocker spaniels. The locus is termed the progressive rod-cone degeneration (prcd) gene. A marker-based linkage test is now available for early diagnosis. The test identifies genetically normal dogs (Type A) with 100% accuracy. The carrier state (type B) will not be affected but may produce PRA bred to an affected dog. The affected (Type C) is at risk for developing PRA. ERG testing is recommended to confirm this. In both type B and type C, false allele readings may lead to misdiagnosis. Current efforts are under research to eliminate these false readings.

K. Central progressive retinal atrophy (CPRA)

In the English Cocker Spaniel, retinal lesions of CPRA have been related to an underlying abnormal metabolism of Vitamin E resulting in a systemic deficiency.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Strande A, Nicolaissen B, Bjerkas I: Persistent pupillary membrane and congenital cataract in a litter of English cocker spaniels. J Small Anim Pract 29:257, 1988.

3. Bedford PGC: A gonioscopic study of the iridocorneal angle in the English and American breeds of Cocker spaniel and the Basset Hound. J Small Anim Pract 18:631, 1977.

4. Bedford PGC: The aetiology of primary glaucoma in the dog. J Small Anim Pract 16:217, 1975.

5. Oleson HP et al: Congenital hereditary cataract in cocker spaniels. J Small Anim Pract 15:741, 1974.

6. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

7. Aguirre GD, Acland GM: Progressive retinal atrophy in the English cocker spaniel. Trans Am Coll Vet Ophthalmol 14:104, 1983.

8. Aguirre GD, Acland GM: Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res 46:663, 1988.

9. Gould DJ, et al: Cloning of canine rom-l and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs. Anim Genetics 28:391, 1997.

10. McLellan GJ, Watson P, et al: Vitamin E deficiency in canine retinal pigment epithelial dystrophy (central progressive retinal atrophy). Proceedings American College of Veterinary Ophthalmologists 27:38, 1997.

11. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

12. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

13. Sanchez RF, Innocent G, Mould J, Billson FM: Canine keratoconjunctivitis sicca: disease trends in a review. J Small Anim Pract 48:211-217, 2007.

14. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

ENGLISH COCKER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF ENGLISH COCKER SPANIEL EXAMINED 6339 3329

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 11 0.17% 3 0.09% DRY EYE 4 0.06% 6 0.18% GLAUCOMA 1 0.02% EYELIDS ENTROPION 27 0.43% 12 0.36% ECTROPION 60 0.95% 32 0.96% DISTICHIASIS 1008 15.90% 697 20.94% ECTOPIC CILIA 3 0.05% 2 0.06% EURY/MACRO BLEPHARON 2 0.03% THIRD EYELID GLAND PROLAPSE 2 0.03% 2 0.06% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 15 0.24% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 44 0.69% 32 0.96% DYSTROPHY--ENDOTHELIAL 31 0.49% 5 0.15% DERMOID 1 0.02% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 8 0.13% 2 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.02% 7 0.21% UVEA IRIS / CILIARY BODY CYSTS 3 0.05% 2 0.06% IRIS COLOBOMA 2 0.03% PIGMENTARY UVEITIS 10.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 46 0.73% 50 1.50% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 26 0.41% 9 0.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 121 1.91% 50 1.50% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 6 0.09% 4 0.12% ENDOTHELIAL PIGMENT/NO PPM 20.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 358 5.65% 181 5.44% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 50 0.79% ANTERIOR CORTEX PUNCTATE* 51 0.80% 28 0.84% ANTERIOR CORTEX INTERMEDIATE* 71 1.12% 52 1.56% ANTERIOR CORTEX DIFFUSE* 11 0.17% 5 0.15% ANTERIOR CORTEX SUSPICIOUS 7 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 125 1.97% 91 2.73% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 23 0.36% POSTERIOR CORTEX PUNCTATE* 21 0.33% 19 0.57% POSTERIOR CORTEX INTERMEDIATE* 75 1.18% 45 1.35% POSTERIOR CORTEX DIFFUSE* 11 0.17% 6 0.18% POSTERIOR CORTEX SUSPICIOUS 4 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 25 0.39% 36 1.08% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 22 0.35% EQUATORIAL CORTEX PUNCTATE* 8 0.13% 10 0.30% EQUATORIAL CORTEX INTERMEDIATE* 48 0.76% 31 0.93%

ENGLISH COCKER SPANIEL

1991 - 1999 2000-2007 EQUATORIAL CORTEX DIFFUSE* 4 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 17 0.27% 15 0.45% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.03% ANTERIOR SUTURES PUNCTATE* 8 0.13% 2 0.06% ANTERIOR SUTURES INTERMEDIATE* 4 0.06% 4 0.12% ANTERIOR SUTURES DIFFUSE* 3 0.05% 1 0.03% ANTERIOR SUTURES SUSPICIOUS 1 0.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 23 0.36% 7 0.21% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 11 0.17% POSTERIOR SUTURES PUNCTATE* 12 0.19% 12 0.36% POSTERIOR SUTURES INTERMEDIATE* 14 0.22% 9 0.27% POSTERIOR SUTURES DIFFUSE* 4 0.06% 1 0.03% POSTERIOR SUTURES SUSPICIOUS 2 0.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 33 0.52% 30 0.90% NUCLEUS (SIZE UNSPECIFIED)* 18 0.28% NUCLEUS PUNCTATE* 9 0.14% 7 0.21% NUCLEUS INTERMEDIATE* 28 0.44% 24 0.72% NUCLEUS DIFFUSE* 6 0.09% 4 0.12% NUCLEUS SUSPICIOUS 4 0.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 39 0.62% 24 0.72% ANTERIOR CAPSULE 25 0.39% ANTERIOR CAPSULE SIGN. UNKNOWN 34 0.54% ANTERIOR CAPSULE SUSPICIOUS 2 0.03% CAPSULAR PUNCTATE 70.21% CAPSULAR INTERMEDIATE 3 0.05% 10 0.30% CAPSULAR SIGN. UNKNOWN 10 0.16% 74 2.22% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.03% POSTERIOR CAPSULE 14 0.22% POSTERIOR CAPSULE SIGN. UNKNOWN 5 0.08% POSTERIOR CAPSULE SUSPICIOUS 5 0.08% GENERALIZED CATARACT* 25 0.39% 13 0.39% SUBLUXATION/LUXATION 5 0.08% 3 0.09% VITREOUS PERSISTENT HYALOID ARTERY 4 0.06% 2 0.06% PHPV/PTVL 2 0.03% 2 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 12 0.19% 7 0.21% DEGENERATION ANTERIOR CHAMBER 10.03% DEGENERATION SYNERESIS 10.03% FUNDUS RETINAL ATROPHY--GENERALIZED 123 1.94% 64 1.92% RETINAL ATROPHY--CENTRAL 2 0.03% RETINAL ATROPHY--SUSPICIOUS 149 2.35% 64 1.92% RETINAL DYSPLASIA FOCAL/FOLDS 59 0.93% 73 2.19% RETINAL DYSPLASIA GEOGRAPHIC 6 0.09% 4 0.12% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.03% RETINAL HEMORRHAGE 2 0.03% 1 0.03% OPTIC NERVE COLOBOMA 10 0.16% 3 0.09% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.03% MICROPAPILLA 2 0.03%

ENGLISH COCKER SPANIEL

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 93 1.47% 26 0.78% OTHER, NON -INHERITED 24 0.38% 202 6.07% NORMAL NORMAL 4409 69.55% 2176 65.36%

ENGLISH SETTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

C. Persistent pupillary membranes iris to iris Not defined 1,8 Breeder option all other forms Not defined 8 NO

D. Cataract Not defined 1 NO

E. Retinal dysplasia Presumed 1 NO - folds autosomal recessive

F. Retinal atrophy- Presumed 1,2 NO generalized autosomal recessive

G. Ceroid lipofuscinosis Not defined 3-7 NO

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

F. Retinal atrophy- generalized

G. Ceroid lipofuscinosis

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Bjerkas E: Generalised progressive retinal atrophy in the English setter in Norway. Vet Rec 126:217, 1990.

3. Koppang N: Neuronal ceroid lipofuscinosis in English setters. J Small Anim Pract 10:639, 1970.

4. Armstrong D, Koppang N, Nilson SE: Canine hereditary ceroid lipofuscinosis. Eur Neurol 21: 147, 1982.

5. Koppang N: The English setter with ceroid lipofuscinosis: A suitable model for the juvenile type of ceroid-lipofuscinosis in humans. Amer J Med Genet (Suppl) 5:117, 1988.

6. Jolly RD, Palmer DN, Studdert VP, et al: Canine ceroid-lipofuscinoses: A review and classification. J Small Anim Pract 35:299, 1994.

7. Nilsson SE, Wrigstad A: Electrophysiology in some animal and human hereditary diseases involving the retinal pigment epithelium. Eye 11 (5):698, 1997.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

ENGLISH SETTER

1991 - 1999 2000-2007 TOTAL NUMBER OF ENGLISH SETTER EXAMINED 522 774

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 2 0.38% 2 0.26% ECTROPION 2 0.38% DISTICHIASIS 36 6.90% 24 3.10% THIRD EYELID GLAND PROLAPSE 20.26% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.38% 5 0.65% DYSTROPHY--ENDOTHELIAL 2 0.38% 1 0.13% UVEA IRIS / CILIARY BODY CYSTS 10.13% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.77% 40 5.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.38% 2 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.96% 2 0.26% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 8 1.53% 15 1.94% ANTERIOR CORTEX PUNCTATE* 2 0.38% 2 0.26% ANTERIOR CORTEX INTERMEDIATE* 30.39% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 1.34% 13 1.68% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.13% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.38% POSTERIOR CORTEX PUNCTATE* 3 0.57% 4 0.52% POSTERIOR CORTEX INTERMEDIATE* 1 0.19% 4 0.52% POSTERIOR CORTEX SUSPICIOUS 1 0.19% POST. CORTEX PUNCT. SIGN. UNKNOWN 40.52% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.19% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.19% 3 0.39% POSTERIOR SUTURES PUNCTATE* 10.13% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.38% 2 0.26% NUCLEUS PUNCTATE* 1 0.19% NUCLEUS INTERMEDIATE* 10.13% NUCLEUS SUSPICIOUS 1 0.19% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.38% 3 0.39% CAPSULAR PUNCTATE 10.13% CAPSULAR INTERMEDIATE 20.26% CAPSULAR SIGN. UNKNOWN 1 0.19% 7 0.90% POSTERIOR CAPSULE 1 0.19% POSTERIOR CAPSULE SUSPICIOUS 1 0.19% GENERALIZED CATARACT* 1 0.19% 1 0.13% SUBLUXATION/LUXATION 1 0.19% VITREOUS PERSISTENT HYALOID ARTERY 2 0.38% 5 0.65% PHPV/PTVL 10.13% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.19% FUNDUS RETINAL ATROPHY--GENERALIZED 4 0.77% 5 0.65%

ENGLISH SETTER

1991 - 1999 2000-2007 RETINAL ATROPHY--SUSPICIOUS 81.03% RETINAL DYSPLASIA FOCAL/FOLDS 5 0.96% 23 2.97% RETINAL DYSPLASIA GEOGRAPHIC 1 0.19% 5 0.65% MICROPAPILLA 10.13% OTHER OTHER, INHERITED 1 0.19% 2 0.26% OTHER, NON -INHERITED 1 0.19% 39 5.04% NORMAL NORMAL 437 83.72% 650 83.98%

ENGLISH SHEPHERD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option Membranes -iris to iris

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the English shepherd breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

ENGLISH SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF ENGLISH SHEPHERD EXAMINED 30 58

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 6.67% EYELIDS ENTROPION 4 13.33% 1 1.72% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 3.33% 4 6.90% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 11.72% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 6.67% 1 1.72% ANTERIOR CORTEX PUNCTATE* 2 6.67% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 3.33% POSTERIOR SUTURES INTERMEDIATE* 11.72% CAPSULAR INTERMEDIATE 11.72% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 2 6.67% OTHER OTHER, NON -INHERITED 46.90% NORMAL NORMAL 26 86.67% 51 87.93%

ENGLISH SPRINGER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 9 Breeder option

B. Entropion Not defined 1 Breeder option

C. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

D. Persistent pupillary membranes - iris to iris Not defined 1,10 Breeder option - all other forms Not defined 10 NO

E. Glaucoma Not defined 1 NO

F. Cataract Not defined 1 NO

G. Persistent hyaloid Not defined 11,12 Breeder option artery

H. Retinal dysplasia Presumed 1-5 NO - folds autosomal recessive

I. Retinal dysplasia Autosomal 1-5 NO - geographic/ recessive detached

J. Retinal atrophy Autosomal 1,6-8 NO - generalized recessive

Description and Comments

A. Distichiasis

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In the Springer Spaniel this usually involves the lower lateral lid margin.

C. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

E. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs when drainage of fluid through the iridocorneal angle (or filtration angle) is impaired. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

F. Cataract

Cataract in the English Springer Spaniel is reported to be a familial trait usually involving the posterior subcapsular region of the lens that progresses slowly.

G. Persistent hyaloid artery (PHA)

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

The relationship between folds and geographic/detached lesions has been a topic of dispute for many years. It is the consensus of the English Springer Field Trial Association Heritable Defects Committee (the breed parent club in the United States) that none of the forms of retinal dysplasia are desirable in a breeding animal. . I. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

J. Retinal atrophy-generalized

PRA in the English Springer Spaniel has an onset of clinical signs at 2 to 9 years of age. For a short time it was argued there were two forms of PRA in the English Springer spaniel. It is now agreed there is only one form which may be a variation of prcd. Pedigree analysis has shown PRA in the English Springer Spaniel to be an autosomal recessive trait.

For DNA testing of PRA: Animal Health Trust (UK): website: www.aht.org.uk.

For DNA testing also contact Dr. Gary Johnson - DNA Research, University of Missouri, 320 Connaway Hall, Columbia, MO 65211. Tel: Liz Hansen 573-884-3712. E-mail [email protected]. Instructions for submission of samples can be found at: http://www.caninegeneticdiseases.net/PRA/mainPRA.htm.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Dubielzig RR, Swanson JF, Wenk EJ: Microphthalmia, cataract, lens luxation and ciliary body dysplasia in a litter of Springer spaniel pups. Trans Am Coll Vet Ophthalmol 16:96, 1985.

3. Schmidt GM et al: Inheritance of retinal dysplasia in the English Springer spaniel. J Am Vet Med Assoc 174:1089, 1979.

4. Lavach JD et al: Retinal dysplasia in the English Springer spaniel. J Am Anim Hosp Assoc 14:192, 1978.

5. O’Toole D, et al: Retinal dysplasia in English springer spaniel dogs: Light microscopy of the postnatal lesions. Vet Pathol 20:298, 1983.

6. Barnett KC: Canine retinopathies III. The other breeds. J Sm Anim Pract 6:185, 1965.

7. Koch S: Retinopahty in the English springer spaniel: An aberrant form of PRA? Proc Am Coll Vet Ophthalmol 28:91, 1997.

8. Wheeler CA: Inheritance of progressive retinal degeneration in the English Springer Spaniel. Proc Am Coll Vet Ophthalmol 29:18, 1998.

9. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

10. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

11. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

12. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

ENGLISH SPRINGER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF ENGLISH SPRINGER SPANIEL EXAMINED 15812 16122

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10 0.06% 11 0.07% DRY EYE 3 0.02% 2 0.01% GLAUCOMA 3 0.02% 1 0.01% EYELIDS ENTROPION 104 0.66% 94 0.58% ECTROPION 31 0.20% 18 0.11% DISTICHIASIS 129 0.82% 119 0.74% EURY/MACRO BLEPHARON 20.01% THIRD EYELID GLAND PROLAPSE 2 0.01% 1 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 209 1.32% 182 1.13% DYSTROPHY--ENDOTHELIAL 4 0.03% 5 0.03% DERMOID 2 0.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.01% 3 0.02% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 20.01% UVEA IRIS / CILIARY BODY CYSTS 10 0.06% IRIS COLOBOMA 10 0.06% 12 0.07% UVEAL MELANOMA 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 881 5.57% 1352 8.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 56 0.35% 28 0.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 47 0.30% 30 0.19% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 21 0.13% 27 0.17% ENDOTHELIAL PIGMENT/NO PPM 10.01% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 302 1.91% 289 1.79% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.11% ANTERIOR CORTEX PUNCTATE* 45 0.28% 40 0.25% ANTERIOR CORTEX INTERMEDIATE* 53 0.34% 76 0.47% ANTERIOR CORTEX DIFFUSE* 4 0.03% 8 0.05% ANTERIOR CORTEX SUSPICIOUS 5 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 119 0.75% 221 1.37% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.11% POSTERIOR CORTEX PUNCTATE* 24 0.15% 26 0.16% POSTERIOR CORTEX INTERMEDIATE* 55 0.35% 63 0.39% POSTERIOR CORTEX DIFFUSE* 7 0.04% 8 0.05% POSTERIOR CORTEX SUSPICIOUS 9 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 19 0.12% 28 0.17% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 11 0.07% EQUATORIAL CORTEX PUNCTATE* 15 0.09% 14 0.09% EQUATORIAL CORTEX INTERMEDIATE* 33 0.21% 32 0.20% EQUATORIAL CORTEX DIFFUSE* 3 0.02% 1 0.01%

ENGLISH SPRINGER SPANIEL

1991 - 1999 2000-2007 EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 26 0.16% 40 0.25% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 7 0.04% ANTERIOR SUTURES PUNCTATE* 5 0.03% 8 0.05% ANTERIOR SUTURES INTERMEDIATE* 7 0.04% 12 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.07% 21 0.13% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 19 0.12% POSTERIOR SUTURES PUNCTATE* 29 0.18% 23 0.14% POSTERIOR SUTURES INTERMEDIATE* 20 0.13% 13 0.08% POSTERIOR SUTURES DIFFUSE* 1 0.01% 1 0.01% POSTERIOR SUTURES SUSPICIOUS 8 0.05% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 52 0.33% 41 0.25% NUCLEUS (SIZE UNSPECIFIED)* 6 0.04% NUCLEUS PUNCTATE* 8 0.05% 9 0.06% NUCLEUS INTERMEDIATE* 18 0.11% 17 0.11% NUCLEUS DIFFUSE* 6 0.04% 6 0.04% NUCLEUS SUSPICIOUS 1 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 34 0.22% 37 0.23% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.01% ANTERIOR CAPSULE 8 0.05% ANTERIOR CAPSULE SIGN. UNKNOWN 5 0.03% ANTERIOR CAPSULE SUSPICIOUS 3 0.02% CAPSULAR PUNCTATE 3 0.02% 14 0.09% CAPSULAR INTERMEDIATE 1 0.01% 15 0.09% CAPSULAR DIFFUSE 20.01% CAPSULAR SIGN. UNKNOWN 8 0.05% 88 0.55% POSTERIOR CAPSULE 5 0.03% POSTERIOR CAPSULE SIGN. UNKNOWN 12 0.08% POSTERIOR CAPSULE SUSPICIOUS 4 0.03% GENERALIZED CATARACT* 12 0.08% 15 0.09% SUBLUXATION/LUXATION 17 0.11% 7 0.04% VITREOUS PERSISTENT HYALOID ARTERY 89 0.56% 91 0.56% PHPV/PTVL 12 0.08% 10 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 67 0.42% 34 0.21% DEGENERATION ANTERIOR CHAMBER 40.02% DEGENERATION SYNERESIS 15 0.09% FUNDUS RETINAL ATROPHY--GENERALIZED 86 0.54% 93 0.58% RETINAL ATROPHY--SUSPICIOUS 79 0.50% 97 0.60% RETINAL DYSPLASIA FOCAL/FOLDS 789 4.99% 656 4.07% RETINAL DYSPLASIA GEOGRAPHIC 348 2.20% 233 1.45% RETINAL DYSPLASIA GENERALIZED/DETACHED 61 0.39% 40 0.25% CHOROIDAL HYPOPLASIA 1 0.01% 3 0.02% STAPHYLOMA / COLOBOMA 3 0.02% RETINAL DETACHMENT 34 0.22% 17 0.11% RETINAL HEMORRHAGE 3 0.02% 5 0.03% OPTIC NERVE COLOBOMA 5 0.03% 5 0.03% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.03% OPTIC NERVE HYPOPLASIA 20.01%

ENGLISH SPRINGER SPANIEL

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 156 0.99% 44 0.27% OTHER, NON -INHERITED 44 0.28% 582 3.61% NORMAL NORMAL 12771 80.77% 13384 83.02%

ENGLISH TOY SPANIEL (King Charles, Prince Charles, Ruby, Blenheim)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Eury/Macroblepharon Not defined 3 Breeder option

D. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

E. Exposure keratopathy Not defined 2 Breeder option syndrome

F. Cataract Not defined 1 NO

G. Persistent hyaloid Not defined 1 Breeder option artery

H. Persistent Presumed 1 NO hyperplastic primary dominant/ vitreous/Persistent incomplete hyperplastic tunica penetrance vasculosa lentis (PHPV/PHTVL)

I. Retinal dysplasia Presumed 1 NO - folds autosomal recessive

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

C. Eury/Macroblepharon

D. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Exposure keratopathy syndrome

F. Cataract

Onset of cataract in the English Toy Spaniel is at an early age (less than 6 months), affecting the cortex and nucleus with rapid progression to complete cataract, resulting in blindness.

G. Persistent hyaloid artery (PHA)

A congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant).

H. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the English Toy Spaniel breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

ENGLISH TOY SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF ENGLISH TOY SPANIEL EXAMINED 125 287

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 1.60% 1 0.35% EYELIDS ENTROPION 15 12.00% 24 8.36% ECTROPION 3 2.40% DISTICHIASIS 9 7.20% 32 11.15% EURY/MACRO BLEPHARON 3 2.40% 6 2.09% THIRD EYELID GLAND PROLAPSE 1 0.80% 1 0.35% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 13 10.40% 27 9.41% DYSTROPHY--ENDOTHELIAL 10.35% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.80% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 1.60% 7 2.44% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 10.35% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 22 17.60% 21 7.32% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 1.60% ANTERIOR CORTEX PUNCTATE* 2 1.60% ANTERIOR CORTEX INTERMEDIATE* 7 5.60% 5 1.74% ANTERIOR CORTEX DIFFUSE* 2 1.60% 2 0.70% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.80% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 2.40% POSTERIOR CORTEX PUNCTATE* 5 4.00% 3 1.05% POSTERIOR CORTEX INTERMEDIATE* 5 4.00% 7 2.44% POSTERIOR CORTEX DIFFUSE* 4 3.20% 2 0.70% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 3.20% EQUATORIAL CORTEX PUNCTATE* 10.35% POSTERIOR SUTURES PUNCTATE* 1 0.80% POSTERIOR SUTURES INTERMEDIATE* 1 0.80% POSTERIOR SUTURES DIFFUSE* 1 0.80% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.35% NUCLEUS (SIZE UNSPECIFIED)* 3 2.40% NUCLEUS PUNCTATE* 10.35% NUCLEUS INTERMEDIATE* 10.35% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.80% ANTERIOR CAPSULE 1 0.80% CAPSULAR PUNCTATE 2 1.60% 4 1.39% CAPSULAR INTERMEDIATE 93.14% CAPSULAR DIFFUSE 10.35% CAPSULAR SIGN. UNKNOWN 72.44% POSTERIOR CAPSULE 1 0.80% GENERALIZED CATARACT* 1 0.80% VITREOUS PERSISTENT HYALOID ARTERY 15 12.00% 24 8.36%

ENGLISH TOY SPANIEL

1991 - 1999 2000-2007 PHPV/PTVL 1 0.80% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.80% 2 0.70% DEGENERATION SYNERESIS 31.05% FUNDUS RETINAL ATROPHY--GENERALIZED 10.35% RETINAL ATROPHY--SUSPICIOUS 10.35% RETINAL DYSPLASIA FOCAL/FOLDS 6 4.80% 28 9.76% RETINAL DYSPLASIA GEOGRAPHIC 20.70% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.35% OPTIC NERVE COLOBOMA 1 0.80% MICROPAPILLA 10.35% OTHER OTHER, INHERITED 2 1.60% 5 1.74% OTHER, NON -INHERITED 27 9.41% NORMAL NORMAL 49 39.20% 163 56.79%

ENTLEBUCHER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 5 NO

B. Persistent pupillary Not defined 3,6 Breeder option membranes - iris to iris

C. Cataract Not defined 1,4,5 NO

D. Retinal dysplasia Not defined 8 Breeder option - folds

E. Retinal atrophy Autosomal 2,4,5,7 NO - generalized recessive progressive rod-cone degeneration (prcd)

Description and Comments

A. Glaucoma

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

E. Retinal atrophy-generalized

The age of onset has been reported to be between 2 and 3 years of age with initial loss of night vision progressing to complete blindness.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. Heitmann M, Hamann H, Brahm R, et al: Analysis of prevalence of presumed inherited eye diseases in Entlebucher Mountain Dogs. Vet Ophthalmol 8:145-151, 2005.

5. Spiess BM: Vererbte Augenkrankheiten beim Entlebucher Sennenhund (inherited ocular diseases in the Entlebucher Mountain Dog). Schweiz Arch Tierheilk 136:105-110, 1994.

6. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

7. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

8. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

ENTLEBUCHER

1991 - 1999 2000-2007 TOTAL NUMBER OF ENTLEBUCHER EXAMINED 137 427

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 5 3.65% 1 0.23% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 40.94% UVEA IRIS / CILIARY BODY CYSTS 10.23% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 2.92% 19 4.45% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 40.94% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.47% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.23% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 20 14.60% 54 12.65% ANTERIOR CORTEX PUNCTATE* 1 0.73% 1 0.23% ANTERIOR CORTEX INTERMEDIATE* 1 0.73% 9 2.11% ANTERIOR CORTEX DIFFUSE* 20.47% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.73% 10 2.34% POSTERIOR CORTEX PUNCTATE* 5 3.65% 14 3.28% POSTERIOR CORTEX INTERMEDIATE* 10 7.30% 35 8.20% POSTERIOR CORTEX DIFFUSE* 20.47% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.73% 14 3.28% EQUATORIAL CORTEX PUNCTATE* 3 2.19% 2 0.47% EQUATORIAL CORTEX INTERMEDIATE* 3 2.19% 5 1.17% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20.47% ANTERIOR SUTURES PUNCTATE* 10.23% POSTERIOR SUTURES PUNCTATE* 2 1.46% POSTERIOR SUTURES INTERMEDIATE* 20.47% NUCLEUS PUNCTATE* 10.23% NUCLEUS INTERMEDIATE* 20.47% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.23% CAPSULAR PUNCTATE 40.94% CAPSULAR INTERMEDIATE 51.17% CAPSULAR SIGN. UNKNOWN 61.41% GENERALIZED CATARACT* 20.47% SUBLUXATION/LUXATION 10.23% VITREOUS PERSISTENT HYALOID ARTERY 1 0.73% DEGENERATION (NO FURTHER SPECIFICATION) 30.70% FUNDUS RETINAL ATROPHY--GENERALIZED 4 2.92% 12 2.81% RETINAL ATROPHY--SUSPICIOUS 2 1.46% 7 1.64% RETINAL DYSPLASIA FOCAL/FOLDS 3 2.19% 6 1.41% RETINAL DYSPLASIA GEOGRAPHIC 1 0.73% 3 0.70% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.23% OTHER OTHER, INHERITED 5 3.65% 3 0.70% OTHER, NON -INHERITED 31 7.26%

ENTLEBUCHER

1991 - 1999 2000-2007 NORMAL NORMAL 96 70.07% 321 75.18%

EURASIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

Description and Comments

A. Distichiasis

References

There are no references providing detailed descriptions of hereditary conditions of the Eurasier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

EURASIER

1991 - 1999 2000-2007 TOTAL NUMBER OF EURASIER EXAMINED 332

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 33.33% 10 31.25% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 33.33% 1 3.13% LENS CAPSULAR SIGN. UNKNOWN 26.25% OTHER OTHER, INHERITED 26.25% OTHER, NON -INHERITED 1 33.33% 1 3.13% NORMAL NORMAL 21 65.63%

FIELD SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectropion Not defined 5 Breeder option

C. Entropion Not defined 5 Breeder option

D. Eury/Macroblepharon Not defined 4 Breeder option

E. Persistent pupillary Not defined 2,3 Breeder option membranes - iris to iris

F. Cataract Not defined 1 NO

G. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Ectropion

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Selection should be directed against entropion and toward a head conformation that reduces or eliminates the likelihood of the defect.

D. Eury/Macroblepharon

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Field Spaniel breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

FIELD SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF FIELD SPANIEL EXAMINED 512 888

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 70.79% ECTROPION 3 0.59% 6 0.68% DISTICHIASIS 53 10.35% 49 5.52% EURY/MACRO BLEPHARON 60.68% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.39% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.39% 2 0.23% DYSTROPHY--ENDOTHELIAL 10.11% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.11% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 1.37% 60 6.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.20% 5 0.56% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.39% 2 0.23% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 1.95% 22 2.48% ANTERIOR CORTEX PUNCTATE* 4 0.78% 2 0.23% ANTERIOR CORTEX INTERMEDIATE* 1 0.20% 11 1.24% ANTERIOR CORTEX DIFFUSE* 1 0.20% ANTERIOR CORTEX SUSPICIOUS 2 0.39% ANT. CORTEX PUNCT. SIGN. UNKNOWN 19 3.71% 22 2.48% POSTERIOR CORTEX PUNCTATE* 1 0.20% 1 0.11% POSTERIOR CORTEX INTERMEDIATE* 40.45% POSTERIOR CORTEX DIFFUSE* 1 0.20% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 2 0.23% EQUATORIAL CORTEX INTERMEDIATE* 10.11% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 3 0.34% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.20% ANTERIOR SUTURES INTERMEDIATE* 20.23% ANTERIOR SUTURES SUSPICIOUS 1 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.59% 4 0.45% POSTERIOR SUTURES INTERMEDIATE* 30.34% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.39% 3 0.34% NUCLEUS INTERMEDIATE* 1 0.20% 2 0.23% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.20% 2 0.23% ANTERIOR CAPSULE 1 0.20% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.39% CAPSULAR PUNCTATE 30.34% CAPSULAR INTERMEDIATE 30.34% CAPSULAR SIGN. UNKNOWN 1 0.20% 20 2.25% POSTERIOR CAPSULE 1 0.20% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.20% VITREOUS PERSISTENT HYALOID ARTERY 1 0.20% 1 0.11%

FIELD SPANIEL

1991 - 1999 2000-2007 FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.20% 1 0.11% RETINAL DYSPLASIA FOCAL/FOLDS 65 12.70% 91 10.25% RETINAL DYSPLASIA GEOGRAPHIC 2 0.39% 4 0.45% RETINAL DETACHMENT 10.11% RETINAL HEMORRHAGE 1 0.20% 3 0.34% OTHER OTHER, INHERITED 6 1.17% 3 0.34% OTHER, NON -INHERITED 46 5.18% NORMAL NORMAL 355 69.34% 685 77.14%

FINNISH LAPPHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option membranes - iris to iris

B. Retinal atrophy Autosomal 1,2 NO - generalized (prcd) recessive

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Retinal atrophy-generalized

This photoreceptor degeneration is characterized by slow death of visual cells following their normal development. The disease begins clinically with signs of night blindness followed by day blindness. Early fundus abnormalities usually appear after 4 years of age. The ERG (electroretinogram) shows marked functional abnormalities indicative of a progressive rod- cone degeneration after 18 months of age.

Note: OptiGen offers blood test for autosomal recessive gene mutation causing retinal atrophy in this breed. The disease has been identified as progressive rod cone degeneration (prcd). Contact: for testing: Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com .

References

1. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

2. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

FINNISH LAPPHUND

1991 - 1999 2000-2007 TOTAL NUMBER OF FINNISH LAPPHUND EXAMINED 29 168

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 3.45% CORNEA EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 3.45% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 10.34% 11 6.55% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 52.98% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 3.45% 1 0.60% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 3.45% 7 4.17% EQUATORIAL CORTEX DIFFUSE* 10.60% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.60% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 3.45% POSTERIOR SUTURES PUNCTATE* 1 3.45% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.60% CAPSULAR SIGN. UNKNOWN 63.57% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 3.45% 4 2.38% OTHER OTHER, INHERITED 2 6.90% 2 1.19% OTHER, NON -INHERITED 1 3.45% 10 5.95% NORMAL NORMAL 20 68.97% 143 85.12%

FINNISH SPITZ

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

Description and Comments

A. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Finnish Spitz breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

FINNISH SPITZ

1991 - 1999 2000-2007 TOTAL NUMBER OF FINNISH SPITZ EXAMINED 157 55

Diagnosic Name Number Percent Number Percent EYELIDS ECTOPIC CILIA 1 0.64% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 1.27% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11.82% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 2.55% ANTERIOR CORTEX PUNCTATE* 2 1.27% ANTERIOR CORTEX INTERMEDIATE* 1 0.64% ANT. CORTEX PUNCT. SIGN. UNKNOWN 16 10.19% 3 5.45% POSTERIOR CORTEX PUNCTATE* 1 0.64% POSTERIOR CORTEX INTERMEDIATE* 1 0.64% POST. CORTEX PUNCT. SIGN. UNKNOWN 11.82% ANTERIOR SUTURES PUNCTATE* 1 0.64% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 1.91% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.64% ANTERIOR CAPSULE 1 0.64% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.64% CAPSULAR PUNCTATE 1 0.64% 1 1.82% CAPSULAR SIGN. UNKNOWN 1 0.64% 1 1.82% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.64% VITREOUS PERSISTENT HYALOID ARTERY 2 1.27% 2 3.64% DEGENERATION (NO FURTHER SPECIFICATION) 3 1.91% FUNDUS RETINAL ATROPHY--GENERALIZED 11.82% RETINAL ATROPHY--SUSPICIOUS 11.82% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.64% 1 1.82% OTHER OTHER, INHERITED 1 0.64% 1 1.82% OTHER, NON -INHERITED 610.91% NORMAL NORMAL 126 80.25% 41 74.55%

FLAT-COATED RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 2,3 NO

B. Distichiasis Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Corneal dystrophy- Not defined 4 Breeder option epithelial/stromal

E. Persistent pupillary Not defined 4 Breeder option membranes- -iris to iris

F. Cataract Not defined 1 NO

Description and Comments

A. Glaucoma [with pectinate ligament dysplasia]

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Entropion

the skin covering the head and face, the orbital contents, and the conformation of the skull. Selection should be directed against entropion and toward head conformation that minimizes or eliminates the likelihood of the defect.

D. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Persistent pupillary membranes (PPM)

F. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. The exact frequency and significance of cataracts in the breed is not known.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Flat- Coated Retriever breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Read RA, Wood JLN, Lakhani KH: Pectinate ligament dysplasia and glaucoma in Flat- Coated Retrievers. I. Objectives, technique and results of a pectinate ligament dysplasia survey. Vet Ophthalmol 1(2-3):85, 1998.

3. Wood JLN, Lakhani KH, Read RA: Pectinate ligament dysplasia and glaucoma in Flat- Coated Retrievers. II. Assessment of prevalence and heritability. Vet Ophthalmol 1(2- 3):91, 1998.

4. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

FLAT-COATED RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF FLAT-COATED RETRIEVER EXAMINED 2598 2889

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 20.07% GLAUCOMA 2 0.08% EYELIDS ENTROPION 6 0.23% 8 0.28% ECTROPION 15 0.58% 14 0.48% DISTICHIASIS 324 12.47% 338 11.70% ECTOPIC CILIA 3 0.12% 2 0.07% EURY/MACRO BLEPHARON 1 0.04% 1 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 21 0.81% 10 0.35% DYSTROPHY--ENDOTHELIAL 2 0.08% 1 0.03% UVEA IRIS / CILIARY BODY CYSTS 3 0.12% 5 0.17% UVEAL MELANOMA 10.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 40 1.54% 70 2.42% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.12% 10 0.35% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.04% 2 0.07% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 59 2.27% 67 2.32% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.31% ANTERIOR CORTEX PUNCTATE* 17 0.65% 21 0.73% ANTERIOR CORTEX INTERMEDIATE* 10 0.38% 15 0.52% ANTERIOR CORTEX SUSPICIOUS 3 0.12% ANT. CORTEX PUNCT. SIGN. UNKNOWN 90 3.46% 194 6.72% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.04% POSTERIOR CORTEX PUNCTATE* 3 0.12% 5 0.17% POSTERIOR CORTEX INTERMEDIATE* 8 0.31% 4 0.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 7 0.27% 21 0.73% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 4 0.15% EQUATORIAL CORTEX PUNCTATE* 20.07% EQUATORIAL CORTEX INTERMEDIATE* 5 0.19% 9 0.31% EQUATORIAL CORTEX SUSPICIOUS 1 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.12% 8 0.28% ANTERIOR SUTURES PUNCTATE* 3 0.12% 12 0.42% ANTERIOR SUTURES INTERMEDIATE* 2 0.08% 2 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 14 0.54% 20 0.69% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.04% POSTERIOR SUTURES PUNCTATE* 40.14% POSTERIOR SUTURES INTERMEDIATE* 3 0.12% 5 0.17% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20 0.77% 38 1.32% NUCLEUS (SIZE UNSPECIFIED)* 1 0.04% NUCLEUS PUNCTATE* 30.10% NUCLEUS INTERMEDIATE* 30.10% NUCLEUS DIFFUSE* 1 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 9 0.35% 23 0.80%

FLAT-COATED RETRIEVER

1991 - 1999 2000-2007 ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.08% CAPSULAR PUNCTATE 50.17% CAPSULAR INTERMEDIATE 20.07% CAPSULAR SIGN. UNKNOWN 10 0.38% 45 1.56% POSTERIOR CAPSULE 1 0.04% POSTERIOR CAPSULE SIGN. UNKNOWN 3 0.12% GENERALIZED CATARACT* 1 0.04% 3 0.10% SUBLUXATION/LUXATION 10.03% VITREOUS PERSISTENT HYALOID ARTERY 6 0.23% 4 0.14% PHPV/PTVL 1 0.04% DEGENERATION (NO FURTHER SPECIFICATION) 10.03% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.04% 8 0.28% RETINAL ATROPHY--SUSPICIOUS 7 0.27% 9 0.31% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.15% 8 0.28% RETINAL DYSPLASIA GEOGRAPHIC 2 0.08% 7 0.24% OPTIC NERVE COLOBOMA 10 0.38% 1 0.03% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.08% OPTIC NERVE HYPOPLASIA 10.03% OTHER OTHER, INHERITED 30 1.15% 21 0.73% OTHER, NON -INHERITED 22 0.85% 196 6.78% NORMAL NORMAL 2003 77.10% 2230 77.19%

FRENCH BULLDOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 3 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - iris to lens Not defined 3 NO - all other forms Not defined 3 NO

D. Cataract Not defined 1 NO

E. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Distichiasis

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In the Dalmatian, entropion normally involves the lower lid.

C. Persistent pupillary membranes (PPM)

D. Cataract

For DNA testing of early onset hereditary cataract contact: Animal Health Trust (UK): website: www.aht.org.uk.

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the French Bulldog breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

FRENCH BULLDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF FRENCH BULLDOG EXAMINED 482 1172

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.09% EYELIDS ENTROPION 15 1.28% DISTICHIASIS 31 6.43% 71 6.06% EURY/MACRO BLEPHARON 30.26% THIRD EYELID GLAND PROLAPSE 2 0.41% 1 0.09% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.83% 7 0.60% DYSTROPHY--ENDOTHELIAL 20.17% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.62% 1 0.09% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.41% UVEA IRIS / CILIARY BODY CYSTS 1 0.21% 2 0.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 6 1.24% 22 1.88% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 30.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.83% 25 2.13% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 30.26% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 18 3.73% 33 2.82% ANTERIOR CORTEX PUNCTATE* 50.43% ANTERIOR CORTEX INTERMEDIATE* 7 1.45% 12 1.02% ANTERIOR CORTEX DIFFUSE* 3 0.62% 1 0.09% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.21% 12 1.02% POSTERIOR CORTEX PUNCTATE* 1 0.21% 1 0.09% POSTERIOR CORTEX INTERMEDIATE* 7 1.45% 5 0.43% POSTERIOR CORTEX DIFFUSE* 1 0.21% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.09% EQUATORIAL CORTEX PUNCTATE* 2 0.41% 1 0.09% EQUATORIAL CORTEX INTERMEDIATE* 6 1.24% 3 0.26% EQUATORIAL CORTEX DIFFUSE* 10.09% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20.17% ANTERIOR SUTURES INTERMEDIATE* 20.17% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.09% POSTERIOR SUTURES PUNCTATE* 2 0.41% POSTERIOR SUTURES INTERMEDIATE* 1 0.21% 3 0.26% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 80.68% NUCLEUS INTERMEDIATE* 1 0.21% 6 0.51% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.17% CAPSULAR PUNCTATE 10.09% CAPSULAR INTERMEDIATE 10.09% CAPSULAR SIGN. UNKNOWN 30.26% GENERALIZED CATARACT* 1 0.21% 6 0.51% VITREOUS PERSISTENT HYALOID ARTERY 60.51%

FRENCH BULLDOG

1991 - 1999 2000-2007 DEGENERATION (NO FURTHER SPECIFICATION) 10.09% DEGENERATION SYNERESIS 10.09% FUNDUS RETINAL ATROPHY--SUSPICIOUS 10.09% RETINAL DYSPLASIA FOCAL/FOLDS 15 3.11% 29 2.47% RETINAL DYSPLASIA GEOGRAPHIC 40.34% RETINAL DETACHMENT 10.09% RETINAL HEMORRHAGE 10.09% OTHER OTHER, INHERITED 2 0.41% 7 0.60% OTHER, NON -INHERITED 5 1.04% 65 5.55% NORMAL NORMAL 403 83.61% 979 83.53%

GERMAN PINSCHER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

B. Persistent pupillary Not defined 6 NO membranes -iris to lens

C. Cataract Not defined 1,2,4 NO

D. Persistent Not defined 4 NO hyperplastic tunica vasculosa lentis (PHTVL)

E. Vitreous Not defined 2 Breeder option degeneration

F. Optic nerve Not defined 3,5 NO hypoplasia

G. Micropapilla Not defined 3,5 Breeder option

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. A pedigree analysis suggested recessive inheritance (4). Cataracts may involve the lens completely (diffuse) or in a localized region.

D. Persistent hyperplastic tunica vasculosa lentis (PHTVL)

Persistent tunica vasculosa lentis results from the failure of regression of the embryologic vascular network which surrounds the developing lens. This disorder has been observed in German Pinschers in Finland. A pedigree analysis suggested recessive inheritance (4).

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Optic nerve hypoplasia

G. Micropapilla

References

There are no references providing detailed descriptions of hereditary ocular conditions of the German pinscher breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. Leppänen M, Mårtenson J, Mäki K: Results of ophthalmologic screening examinations of German Pinschers in Finland – a retrospective study. Vet Ophthalmol 3:165-169, 2001.

5. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

6. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

GERMAN PINSCHER

1991 - 1999 2000-2007 TOTAL NUMBER OF GERMAN PINSCHER EXAMINED 104 312

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 10.32% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 2.88% 6 1.92% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 30.96% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 51.60% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 12 11.54% 40 12.82% ANTERIOR CORTEX PUNCTATE* 1 0.96% 6 1.92% ANTERIOR CORTEX INTERMEDIATE* 3 2.88% 10 3.21% ANTERIOR CORTEX DIFFUSE* 2 1.92% ANT. CORTEX PUNCT. SIGN. UNKNOWN 92.88% POSTERIOR CORTEX PUNCTATE* 5 4.81% 8 2.56% POSTERIOR CORTEX INTERMEDIATE* 4 3.85% 18 5.77% POSTERIOR CORTEX DIFFUSE* 2 1.92% 1 0.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.96% 4 1.28% EQUATORIAL CORTEX INTERMEDIATE* 51.60% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.32% ANTERIOR SUTURES PUNCTATE* 1 0.96% 2 0.64% ANTERIOR SUTURES INTERMEDIATE* 1 0.96% 3 0.96% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.64% POSTERIOR SUTURES PUNCTATE* 1 0.96% 5 1.60% POSTERIOR SUTURES INTERMEDIATE* 82.56% POSTERIOR SUTURES DIFFUSE* 10.32% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 2.88% 5 1.60% NUCLEUS INTERMEDIATE* 1 0.96% 1 0.32% CAPSULAR PUNCTATE 1 0.96% 3 0.96% CAPSULAR INTERMEDIATE 61.92% CAPSULAR DIFFUSE 20.64% CAPSULAR SIGN. UNKNOWN 1 0.96% 3 0.96% VITREOUS PERSISTENT HYALOID ARTERY 1 0.96% 1 0.32% PHPV/PTVL 1 0.96% 1 0.32% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.92% 6 1.92% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 10.32% RETINAL DYSPLASIA GEOGRAPHIC 10.32% RETINAL HEMORRHAGE 1 0.96% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 4.81% MICROPAPILLA 20.64% OTHER OTHER, INHERITED 2 1.92% 1 0.32% OTHER, NON -INHERITED 4 3.85% 23 7.37%

GERMAN PINSCHER

1991 - 1999 2000-2007 NORMAL NORMAL 76 73.08% 240 76.92%

GERMAN SHEPHERD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 19 Breeder option

B. Chronic superficial Not defined 1-5 NO keratitis/pannus

C. Corneal dystrophy Not defined 1,6 Breeder option - epithelial/stromal

D. Persistent pupillary Not defined 20, 21 Breeder option membranes - iris to iris

E. Cataract

1. Congenital Presumed 1,7,8,13,14 NO autosomal dominant

2. Cortical Presumed 1,9,15 NO autosomal recessive

F. Retinal atrophy Not defined 1,10-12,16-18 NO - generalized

G. Retinal dysplasia Not defined 1 Breeder option - folds

H. Optic nerve Not defined 1 NO hypoplasia

I. Limbal melanoma Not defined 22,23 NO

Description and Comments

A. Distichiasis

B. Chronic superficial keratitis/pannus

The German Shepherd dog has a higher incidence of pannus than any other breed. While environment may play a contributing role, an inherited predisposition must be considered.

C. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

D. Persistent pupillary membranes (PPM)

E. Cataract

1. Congenital: Reported by von Hippel in Germany in 1930, these cataracts are present at birth and visible when the eyes open. They are usually non-progressive. Test breedings indicate an autosomal dominant mode of transmission. The occurrence is rare.

2. Cortical: Reported by Barnett in Great Britain, opacities are first apparent at 8-12 weeks of age, in the posterior cortex and progress to involve the Y-sutures and nucleus. The equatorial subcapsular cortex is unaffected. No progression is noted after 1-2 years of age. Test breeding suggests an autosomal recessive mode of inheritance.

F. Retinal atrophy-generalized

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined

H. Optic nerve hypoplasia

I. Limbal melanoma

Most limbal melanomas are really epibulbar melanocytomas, but there is a possibility of an extension of an intraocular melanoma extending outward and presenting as a limbal melanoma.. An epibulbar melanocytoma originates from the superficial pigment lining the limbus and the lesion may eventually extend into the eye. Metastasis has not been documented and the mass is characterized by large epithelioid cells. The lesion presents as a subconjunctival smooth mass most commonly in the dorsolateral limbal region and extends later into the cornea and posterior on the sclera. Breed predisposition have been noted in the German shepherd, Labrador and Golden Retriever.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Uberreiter O: A particular form of keratitis [chronic superficial keratitis] in dogs. Wien Tierarztl Mschr 48:65, 1961.

3. Krahenmann A: Effect of UV light on the cornea of German shepherd dogs. Proc World Veterinary Congress, p1741, 1975.

4. Slatter DH et al: Uberreiter's syndrome (chronic superficial keratitis) in dogs in the Rocky Mountain area: a study of 463 cases. J Small Anim Pract 18:757, 1977.

5. Campbell LH et al: Chronic superficial keratitis in dogs: Detection of cellular hypersensitivity. Am J Vet Res 36:669, 1975.

6. Bedford PGC, Longstaffe JA: Corneal pannus (chronic superficial keratitis in the German shepherd dog. J Small Anim Prac 20:41, 1979.

7. Drahenmann A: Auto-immune phenomenon in chronic superficial keratitis (Uberreiter) in shepherd dogs. In Trever Roper (ed): The Cornea in Health and Disease, London, The Royal Society of Medicine, Academic Press, Grune & Stratton, p261, 1981.

8. French JR, Clerc B, Isseautier MN: Chronic superficial keratitis in the German shepherd dog. An attempt to prove an immunologic process. Trans Am Coll Vet Ophthalmol 27:3, 1986.

9. Crispin S, Barnett KC: Dystrophy, degeneration and infiltration of the canine cornea. J Small Anim Pract 24:63, 1983.

10. Eichenbaum JD et al: Immunohistochemical staining patterns of canine eyes affected with chronic superficial keratitis. Am J Vet Res 47:1952, 1986.

11. Clerc B: Chronic superficial keratitis in German Shepherd dogs and other breeds. Canine Pract 21:6, 1996.

12. Brooks DE, Samuelson DA, Smith PJ: Corneal endothelial degeneration in a German shepherd dog. J Small Anim Prac 31:32, 1990.

13. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

14. von Hippel E: (Embryological investigation of hereditary congenital cataract, of lamellar cataract in dogs as well as a peculiar form of capsular cataract). Graefes Arch Ophthalmol 124:300, 1930.

15. Barnett KC: Hereditary cataract in the German shepherd dog. J Small Anim Pract 27:387, 1986.

16. Barnett KC: Canine retinopathies III. The other breeds. J Small Anim Pract 6:185, 1965.

17. Hodgman SFJ: Abnormalities and defects in pedigree dogs I. An investigation into the existence of abnormalities in pedigree dogs in the British Isles. J Small Anim Pract 4:447, 1963.

18. Priester WA: Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res 35:571, 1974.

19. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

20. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

21. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

22. Martin CL: Canine epibulbar melanomas. J Amer Anim Hospital Assoc 17:83-90, 1981.

23. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

GERMAN SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF GERMAN SHEPHERD EXAMINED 1973 1419

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 5 0.25% 2 0.14% DRY EYE 2 0.10% 1 0.07% GLAUCOMA 3 0.15% EYELIDS ENTROPION 1 0.05% ECTROPION 3 0.15% 1 0.07% DISTICHIASIS 36 1.82% 12 0.85% ECTOPIC CILIA 10.07% EURY/MACRO BLEPHARON 1 0.05% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.05% 1 0.07% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 90 4.56% 81 5.71% DYSTROPHY--ENDOTHELIAL 1 0.05% 1 0.07% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 30 1.52% 43 3.03% UVEA IRIS / CILIARY BODY CYSTS 6 0.30% 10 0.70% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 19 0.96% 20 1.41% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.15% 11 0.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 80.56% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 91 4.61% 80 5.64% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.20% ANTERIOR CORTEX PUNCTATE* 7 0.35% 10 0.70% ANTERIOR CORTEX INTERMEDIATE* 9 0.46% 18 1.27% ANTERIOR CORTEX DIFFUSE* 2 0.10% 1 0.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 18 0.91% 13 0.92% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.25% POSTERIOR CORTEX PUNCTATE* 6 0.30% 5 0.35% POSTERIOR CORTEX INTERMEDIATE* 17 0.86% 7 0.49% POSTERIOR CORTEX DIFFUSE* 4 0.20% POSTERIOR CORTEX SUSPICIOUS 1 0.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.20% 4 0.28% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.10% EQUATORIAL CORTEX PUNCTATE* 2 0.10% 6 0.42% EQUATORIAL CORTEX INTERMEDIATE* 4 0.20% 15 1.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 7 0.35% 7 0.49% ANTERIOR SUTURES PUNCTATE* 1 0.05% ANTERIOR SUTURES INTERMEDIATE* 2 0.10% 1 0.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.05% 3 0.21% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.10% POSTERIOR SUTURES PUNCTATE* 4 0.20% 2 0.14%

GERMAN SHEPHERD

1991 - 1999 2000-2007 POSTERIOR SUTURES INTERMEDIATE* 2 0.10% 3 0.21% POSTERIOR SUTURES SUSPICIOUS 2 0.10% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.15% 15 1.06% NUCLEUS (SIZE UNSPECIFIED)* 13 0.66% NUCLEUS PUNCTATE* 10 0.51% 9 0.63% NUCLEUS INTERMEDIATE* 24 1.22% 16 1.13% NUCLEUS DIFFUSE* 5 0.25% NUCLEUS PUNCTATE SIGN. UNKNOWN 34 1.72% 23 1.62% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.10% CAPSULAR PUNCTATE 2 0.10% 3 0.21% CAPSULAR INTERMEDIATE 20.14% CAPSULAR SIGN. UNKNOWN 3 0.15% 14 0.99% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.05% POSTERIOR CAPSULE SUSPICIOUS 2 0.10% GENERALIZED CATARACT* 2 0.10% 6 0.42% GENERALIZED SUSPICIOUS 1 0.05% SUBLUXATION/LUXATION 2 0.10% 4 0.28% VITREOUS PERSISTENT HYALOID ARTERY 3 0.15% PHPV/PTVL 2 0.10% 1 0.07% DEGENERATION (NO FURTHER SPECIFICATION) 6 0.30% DEGENERATION ANTERIOR CHAMBER 10.07% DEGENERATION SYNERESIS 10.07% FUNDUS RETINAL ATROPHY--GENERALIZED 5 0.25% 6 0.42% RETINAL ATROPHY--SUSPICIOUS 3 0.15% 2 0.14% RETINAL DYSPLASIA FOCAL/FOLDS 38 1.93% 33 2.33% RETINAL DYSPLASIA GEOGRAPHIC 8 0.41% 6 0.42% CHOROIDAL HYPOPLASIA 1 0.05% RETINAL DETACHMENT 2 0.10% 1 0.07% OPTIC NERVE COLOBOMA 2 0.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 27 1.37% OPTIC NERVE HYPOPLASIA 60.42% MICROPAPILLA 18 1.27% OTHER OTHER, INHERITED 22 1.12% 12 0.85% OTHER, NON -INHERITED 7 0.35% 119 8.39% NORMAL NORMAL 1545 78.31% 1050 74.00%

GERMAN SHORTHAIRED POINTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Everted cartilage Not defined 1,2 Breeder option of the third eyelid

C. Persistent pupillary Membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

D. Cataract Not defined 1 NO

E. Persistent hyperplastic Not defined 1,3 NO primary vitreous/ persistent hyperplastic tunica vasculosa lentis (PHPV/PHTVL)

F. Retinal atrophy Not defined 1,4 NO - generalized

G. Retinal dysplasia Not defined 1 Breeder option - folds

H. Cone degeneration Autosomal 5 NO - day blindness recessive

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

E. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

A congenital defect resulting from abnormalities in the development and regression of the hyaloid artery (the primary vitreous) and the interaction of this blood vessel with the posterior lens capsule/cortex during embryogenesis. This condition is often associated with persistent hyperplastic tunica vasculosa lentis (PHTVL) which results from failure of regression of the embryologic vascular network which surrounds the developing lens.

F. Retinal atrophy-generalized

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

H. Cone degeneration – day blindness or hemeralopia

Autosomal recessively inherited early degeneration of the cone photoreceptors. Afflicted puppies develop day-blindness, colorblindness, and photophobia between 8 and 12 weeks of age. Afflicted dogs remain ophthalmoscopically normal their entire life. Electroretinography is required to definitively diagnose the disorder.

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References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Martin CL, Leach R: Everted membrane nictitans in German shorthaired pointers. J Am Vet Med Assoc 157:1229, 1970.

3. Berger SL: Persistent hyperplastic tunica vasculosa lentis/persistent hyperplastic primary vitreous in the German shorthaired pointer. Proc Am Coll Vet Ophthalmol 26:42, 1995.

4. Priester WA: Canine progressive retinal atrophy: Occurrence by age, breed and sex. Am J Vet Res 35:571, 1974.

5. Sidjanin DJ, Lowe JK, McElwee JL, et al: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Human Molecular genetics 11 (16) 1823-1833, 2002.

6. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

GERMAN SHORTHAIRED POINTER

1991 - 1999 2000-2007 TOTAL NUMBER OF GERMAN SHORTHAIRED POINTER 1286 1996 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 1 0.08% EYELIDS ENTROPION 4 0.31% 4 0.20% ECTROPION 2 0.16% DISTICHIASIS 41 3.19% 66 3.31% EURY/MACRO BLEPHARON 1 0.08% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 0.23% 6 0.30% DYSTROPHY--ENDOTHELIAL 1 0.08% UVEA IRIS / CILIARY BODY CYSTS 40.20% IRIS COLOBOMA 1 0.08% 1 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 48 3.73% 139 6.96% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 6 0.47% 7 0.35% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.23% 1 0.05% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.08% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 69 5.37% 78 3.91% ANTERIOR CORTEX PUNCTATE* 9 0.70% 5 0.25% ANTERIOR CORTEX INTERMEDIATE* 4 0.31% 7 0.35% ANTERIOR CORTEX DIFFUSE* 1 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 17 1.32% 37 1.85% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 6 0.47% POSTERIOR CORTEX PUNCTATE* 10 0.78% 17 0.85% POSTERIOR CORTEX INTERMEDIATE* 26 2.02% 31 1.55% POSTERIOR CORTEX DIFFUSE* 5 0.39% POSTERIOR CORTEX SUSPICIOUS 1 0.08% POST. CORTEX PUNCT. SIGN. UNKNOWN 9 0.70% 5 0.25% EQUATORIAL CORTEX PUNCTATE* 3 0.23% 5 0.25% EQUATORIAL CORTEX INTERMEDIATE* 6 0.47% 9 0.45% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 9 0.70% 9 0.45% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.05% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.16% 5 0.25% POSTERIOR SUTURES PUNCTATE* 5 0.39% 1 0.05% POSTERIOR SUTURES INTERMEDIATE* 5 0.39% 4 0.20% POSTERIOR SUTURES DIFFUSE* 1 0.08% POSTERIOR SUTURES SUSPICIOUS 1 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.31% 11 0.55% NUCLEUS PUNCTATE* 1 0.08% 6 0.30% NUCLEUS INTERMEDIATE* 2 0.16% 8 0.40% NUCLEUS DIFFUSE* 2 0.16% NUCLEUS SUSPICIOUS 1 0.08% NUCLEUS PUNCTATE SIGN. UNKNOWN 14 1.09% 23 1.15% CAPSULAR PUNCTATE 3 0.23% 3 0.15% CAPSULAR INTERMEDIATE 1 0.08% 5 0.25%

GERMAN SHORTHAIRED POINTER

1991 - 1999 2000-2007 CAPSULAR SIGN. UNKNOWN 3 0.23% 22 1.10% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.05% POSTERIOR CAPSULE 2 0.16% POSTERIOR CAPSULE SUSPICIOUS 1 0.08% GENERALIZED CATARACT* 4 0.31% 1 0.05% SUBLUXATION/LUXATION 2 0.16% VITREOUS PERSISTENT HYALOID ARTERY 20.10% PHPV/PTVL 4 0.31% 1 0.05% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.08% 6 0.30% DEGENERATION SYNERESIS 30.15% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.08% 1 0.05% RETINAL ATROPHY--SUSPICIOUS 3 0.23% 1 0.05% RETINAL DYSPLASIA FOCAL/FOLDS 34 2.64% 35 1.75% RETINAL DYSPLASIA GEOGRAPHIC 4 0.31% 8 0.40% CHOROIDAL HYPOPLASIA 10.05% OPTIC NERVE COLOBOMA 1 0.08% OPTIC NERVE HYPOPLASIA 40.20% MICROPAPILLA 10.05% OTHER OTHER, INHERITED 13 1.01% 4 0.20% OTHER, NON -INHERITED 8 0.62% 108 5.41% NORMAL NORMAL 1014 78.85% 1663 83.32%

GERMAN WIREHAIRED POINTER (Drahtaar)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

B. Retinal dysplasia Not defined 2 Breeder option -folds

Description and Comments

A. Cataract

B. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the German Wirehaired Pointer breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

GERMAN WIREHAIRED POINTER

1991 - 1999 2000-2007 TOTAL NUMBER OF GERMAN WIREHAIRED POINTER EXAMINED 158 124

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 4 2.53% EURY/MACRO BLEPHARON 1 0.63% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 1.27% 2 1.61% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 2.53% 5 4.03% ANTERIOR CORTEX PUNCTATE* 21.61% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.81% POSTERIOR CORTEX PUNCTATE* 2 1.27% 1 0.81% POSTERIOR CORTEX INTERMEDIATE* 1 0.63% 1 0.81% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 1.27% 1 0.81% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.81% POSTERIOR SUTURES PUNCTATE* 1 0.63% POSTERIOR SUTURES INTERMEDIATE* 10.81% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 1.27% ANTERIOR CAPSULE SUSPICIOUS 4 2.53% CAPSULAR DIFFUSE 10.81% CAPSULAR SIGN. UNKNOWN 10.81% POSTERIOR CAPSULE SUSPICIOUS 1 0.63% GENERALIZED CATARACT* 1 0.63% VITREOUS PERSISTENT HYALOID ARTERY 1 0.63% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.63% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 3 1.90% RETINAL DETACHMENT 1 0.63% OTHER OTHER, INHERITED 3 1.90% 1 0.81% OTHER, NON -INHERITED 86.45% NORMAL NORMAL 132 83.54% 115 92.74%

GIANT SCHNAUZER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Everted cartilage Not defined 1 Breeder option of the third eyelid

B. Persistent pupillary Not defined 2 Breeder option membranes -iris to iris

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 2 Breeder option -focal/folds

Description and Comments

A. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Giant Schnauzer breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

GIANT SCHNAUZER

1991 - 1999 2000-2007 TOTAL NUMBER OF GIANT SCHNAUZER EXAMINED 260 387

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.26% EYELIDS DISTICHIASIS 1 0.38% 2 0.52% THIRD EYELID CARTILAGE ANOMALY/EVERSION 2 0.77% 5 1.29% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.26% DYSTROPHY--ENDOTHELIAL 1 0.38% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 3.08% 17 4.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.38% 2 0.52% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 1.92% 1 0.26% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 5.00% 18 4.65% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.38% ANTERIOR CORTEX PUNCTATE* 20.52% ANTERIOR CORTEX INTERMEDIATE* 10.26% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.77% 4 1.03% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.77% POSTERIOR CORTEX PUNCTATE* 2 0.77% 2 0.52% POSTERIOR CORTEX INTERMEDIATE* 5 1.92% 12 3.10% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.77% 3 0.78% EQUATORIAL CORTEX INTERMEDIATE* 41.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.26% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.52% POSTERIOR SUTURES PUNCTATE* 1 0.38% 1 0.26% POSTERIOR SUTURES INTERMEDIATE* 1 0.38% 2 0.52% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.77% 2 0.52% NUCLEUS PUNCTATE* 10.26% NUCLEUS INTERMEDIATE* 20.52% NUCLEUS DIFFUSE* 2 0.77% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.77% CAPSULAR PUNCTATE 1 0.38% 2 0.52% CAPSULAR INTERMEDIATE 10.26% CAPSULAR SIGN. UNKNOWN 61.55% POSTERIOR CAPSULE 2 0.77% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.38% SUBLUXATION/LUXATION 10.26% VITREOUS PERSISTENT HYALOID ARTERY 3 1.15% 1 0.26% PHPV/PTVL 1 0.38% 1 0.26% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.38% FUNDUS RETINAL ATROPHY--GENERALIZED 3 1.15% 2 0.52%

GIANT SCHNAUZER

1991 - 1999 2000-2007 RETINAL ATROPHY--SUSPICIOUS 1 0.38% RETINAL DYSPLASIA FOCAL/FOLDS 6 2.31% 12 3.10% RETINAL DYSPLASIA GEOGRAPHIC 10.26% OTHER OTHER, INHERITED 3 1.15% OTHER, NON -INHERITED 15 3.88% NORMAL NORMAL 214 82.31% 331 85.53%

GLEN OF IMAAL TERRIER (Irish)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Optic nerve Not defined 1 NO coloboma

C. Cataract Not defined 4 NO

D. Retinal atrophy Not defined 1,2,3,4 NO -generalized

Description and Comments

A. Distichiasis

B. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

C. Cataract

D. Retinal atrophy-generalized

This disorder, as described in the Irish Glen of Imaal Terrier, appears to be a late onset cone-rod dystrophy and not typical prcd. A small colony of dogs segregating this disease is owned by Dr. Greg Acland, Retinal Disease Studies Facility, University of Pennsylvania/New Bolton Center, 382 West Street Road, Kennett Square, PA 19348. e-mail [email protected]

References

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

2. Kijas JW, Zanger B, Miller B, Nelson J, Kirkness EF, Aquirre GD, Acland GM: Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Molecular Vision 10: 223-232, 2004

3. Acland GM: Personal communication, 2005

4. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

GLEN OF IMAAL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF GLEN OF IMAAL TERRIER EXAMINED 73 218

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.46% EYELIDS ENTROPION 10.46% DISTICHIASIS 2 2.74% 6 2.75% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.46% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 3 4.11% 6 2.75% ANTERIOR CORTEX PUNCTATE* 1 1.37% 1 0.46% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 1.37% 5 2.29% POSTERIOR CORTEX PUNCTATE* 1 1.37% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 2.74% 1 0.46% EQUATORIAL CORTEX PUNCTATE* 2 2.74% EQUATORIAL CORTEX INTERMEDIATE* 10.46% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 1.37% 5 2.29% ANTERIOR SUTURES INTERMEDIATE* 10.46% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 2.74% POSTERIOR SUTURES INTERMEDIATE* 10.46% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 4.11% 1 0.46% NUCLEUS PUNCTATE* 20.92% NUCLEUS INTERMEDIATE* 10.46% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 6.85% 1 0.46% CAPSULAR PUNCTATE 20.92% CAPSULAR SIGN. UNKNOWN 20.92% SUBLUXATION/LUXATION 2 2.74% 1 0.46% VITREOUS PERSISTENT HYALOID ARTERY 1 1.37% DEGENERATION SYNERESIS 10.46% FUNDUS RETINAL ATROPHY--GENERALIZED 41.83% RETINAL ATROPHY--SUSPICIOUS 1 1.37% 6 2.75% RETINAL DYSPLASIA FOCAL/FOLDS 41.83% RETINAL DYSPLASIA GEOGRAPHIC 10.46% OPTIC NERVE COLOBOMA 3 4.11% 1 0.46% OTHER OTHER, INHERITED 13 17.81% OTHER, NON -INHERITED 11 5.05% NORMAL NORMAL 52 71.23% 179 82.11%

GOLDEN RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

D. Iris cysts Not defined 1,2,3 Breeder option

E. Glaucoma Not defined 1 NO

F. Pigmentary uveitis Not defined 1,16,19 NO

G. Persistent pupillary membranes - iris to iris Not defined 1,20 Breeder option - all other forms Not defined 20 NO

H. Cataract Not defined 1,4-11,17 NO

I. Retinal dysplasia Not defined 1,18 Breeder option - folds

J. Retinal dysplasia Not defined 1,18 NO - geographic/ detached

K. Retinal atrophy Autosomal 1,12,13 NO - generalized recessive

L. Central progressive Not defined 1,14,15 NO retinal atrophy

M Limbal melanoma Not defined 21 NO

Description and Comments

A. Distichiasis

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Selection should be directed against entropion and toward a head conformation that reduces or eliminates the likelihood of the defect.

C. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

D. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

This disorder may be observed in any breed but retriever breeds tend to be predisposed. There is usually no effect on vision unless the cysts are heavily clustered and impinge on the pupillary area. Less frequently, the cysts may rupture and adhere to the cornea or anterior lens capsule. Multiple cysts may occlude the iridocorneal angle and cause glaucoma.

E. Glaucoma

F. Pigmentary uveitis

A unique uveitis observed in the Golden retriever that is not associated with other ocular or systemic disorders. Adhesions develop between iris and lens and the peripheral iris and cornea. Pigment dispersion (exfoliation) occurs across the anterior lens capsule from the pigmented cells of the posterior iris. Other complications include secondary cataract and obstructive glaucoma. Onset is usually between 5-10 years of age.

G. Persistent pupillary membranes (PPM)

H. Cataract

The most common cataract reported in the Golden Retriever is a posterior polar (posterior cortical) cataract. These are generally bilateral, although an occasional unilateral affliction may be observed. These focal opacities will occasionally remain stationary. These cataracts are usually observed between 9 months and 3 years of age. A more generalized cataract is also observed in this breed and is not always associated with the previously mentioned polar cataract. There are also cataract changes involving the Y sutures which may or may not progress.

The existence of cataracts in the Golden retriever, often with limited clinical significance, presents problems with breeder recognition as the majority of these dogs do not evidence visual impairment. It is strongly recommended that all Golden retrievers that are used in breeding programs be examined annually as cataract changes have been observed in multiple locations of the lens and variable age of onset.

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

J. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

K. Retinal atrophy-generalized

L. Central Progressive Retinal Atrophy (CPRA)

A progressive retinal degeneration in which photoreceptor death occurs secondary to disease of the underlying pigment epithelium. Progression is slow and some animals never lose vision. CPRA occurs in England, but is uncommon elsewhere. In some breeds, retinal lesions of CPRA have been related to an underlying abnormal metabolism of Vitamin E resulting in a systemic deficiency.

M. Limbal melanoma

Most limbal melanomas are realy epibulbar melanocytomas, but there is a possibility of an extension of an intraocular melanoma extending outward and presenting as a limbal melanoma.. An epibulbar melanocytoma originates from the superficial pigment lining the limbus and the lesion may eventually extend into the eye. Metastasis has not been documented and the mass is characterized by large epithelioid cells. The lesion presents as a subconjunctival smooth mass most commonly in the dorsolateral limbal region and extends later into the cornea and posterior on the sclera. Breed predisposition have been noted in the German shepherd, Labrador and Golden Retriever.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Aguirre G, Holle D, Stankovics M: Hereditary ocular disorders in dog guides for the visually impaired. Proc Am Coll Vet Ophthalmol 25:14, 1994.

3. Cooley, PL, Dice DF. Corneal dystrophy in the dog and cat. Vet Clin No Am Small An Pract 20:681, 1990.

4. Deehr AJ, Dubielzig RR: A histopathological study of iridociliary cysts and glaucoma in Golden Retrievers. Vet Ophthalmol v.1, no.2-3:153, 1998.

5. Bona A. Eine populationsgenetische Untersuchung zur Zuchtsituation und zu erblich determinierten Erkrankun- insbesodere Augen- und Gelenkserkrankungen- bein Golden und Labrador Retriever. (A population genetic study of the breeding situation and inherited diseases, particularly eye and joint diseases, in the Golden and Labrador retrievers.) Tierarztliche Hochschule Hannover: Hannover Germany, 1995.

6. Gelatt KN: Cataracts in the Golden retriever. VM/SAC 67:1113, 1972.

7. Rubin LF: Cataracts in Golden retrievers. J Am Vet Med Assoc 165:457, 1974.

8. Barnett KC: Hereditary cataract in the dog. J Small Aim Pract 19:109, 1978.

9. Barnett KC: Cataract in the golden retriever. Vet Rec 111:315, 1980.

10. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Aim Pract 26:305, 1985.

11. Curtis R: Hereditary cataract in the Golden and Labrador retrievers in the United Kingdom. Trans Am Coll Vet Ophthal 17:23, 1986.

12. Curtis R, Barnett KC: A survey of cataracts in Golden and Labrador retrievers. J Small Aim Pract 30:277, 1989.

13. Gelatt KN: Description and diagnosis of progressive retinal atrophy. Norden News 24, 1974.

14. Barnett KC: Canine retinopathies III. The other breeds. J Small Anim Pract 6:185, 1965.

15. Parry HB: Degenerations of the dog retina VI. CPRA with pigment epithelial dystrophy. Br J Ophthalmol 38:653, 1954.

16. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

17. Aguirre G, Holle D, Yu-Speight A, et al: A re-examination of the mode of inheritance of posterior cortical cataracts in Labrador and Golden Retrievers. Trans Am Coll Vet Ophthal 35:25, 2004.

18. Crispin S: Multifocal retinal dysplasia (MRD) in the Golden Retriever in the UK. Proc Europ Conf Vet Visual Electrophys 1:43, 2000.

19. Sapienza J, Simo FJ et al: Golden Retriever Uveitis: 75 cases (1994-1999). Vet Ophthal 4:241, 2000.

20. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

21. Donaldson D, Sansom J et al: Canine limbal melanoma: 30 cases (1992-2004). Part 1.Signalment, clinical and histological features and pedigree analysis. Vet Ophthal 9:119, 2006.

GOLDEN RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF GOLDEN RETRIEVER EXAMINED 50488 49508

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 31 0.06% 11 0.02% DRY EYE 1 0.00% GLAUCOMA 26 0.05% 3 0.01% EYELIDS ENTROPION 171 0.34% 113 0.23% ECTROPION 43 0.09% 39 0.08% DISTICHIASIS 5979 11.84% 5183 10.47% ECTOPIC CILIA 24 0.05% 17 0.03% EURY/MACRO BLEPHARON 4 0.01% 14 0.03% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.01% 2 0.00% GLAND PROLAPSE 1 0.00% 2 0.00% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 9 0.02% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 207 0.41% 183 0.37% DYSTROPHY--ENDOTHELIAL 23 0.05% 7 0.01% DERMOID 3 0.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 8 0.02% 2 0.00% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.00% 4 0.01% UVEA IRIS / CILIARY BODY CYSTS 1255 2.49% 2392 4.83% IRIS COLOBOMA 4 0.01% 9 0.02% PIGMENTARY UVEITIS 71 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 621 1.23% 1150 2.32% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 53 0.10% 41 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 34 0.07% 34 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 43 0.09% 62 0.13% ENDOTHELIAL PIGMENT/NO PPM 70.01% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 3112 6.16% 2820 5.70% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 86 0.17% ANTERIOR CORTEX PUNCTATE* 145 0.29% 186 0.38% ANTERIOR CORTEX INTERMEDIATE* 195 0.39% 297 0.60% ANTERIOR CORTEX DIFFUSE* 19 0.04% 20 0.04% ANTERIOR CORTEX SUSPICIOUS 22 0.04% ANT. CORTEX PUNCT. SIGN. UNKNOWN 592 1.17% 955 1.93% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 70.01% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 428 0.85% POSTERIOR CORTEX PUNCTATE* 668 1.32% 724 1.46% POSTERIOR CORTEX INTERMEDIATE* 1008 2.00% 1102 2.23% POSTERIOR CORTEX DIFFUSE* 49 0.10% 32 0.06% POSTERIOR CORTEX SUSPICIOUS 54 0.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 283 0.56% 362 0.73% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 61 0.12%

GOLDEN RETRIEVER

1991 - 1999 2000-2007 EQUATORIAL CORTEX PUNCTATE* 94 0.19% 136 0.27% EQUATORIAL CORTEX INTERMEDIATE* 194 0.38% 329 0.66% EQUATORIAL CORTEX DIFFUSE* 5 0.01% 9 0.02% EQUATORIAL CORTEX SUSPICIOUS 24 0.05% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 330 0.65% 471 0.95% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 60.01% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 10 0.02% ANTERIOR SUTURES PUNCTATE* 33 0.07% 24 0.05% ANTERIOR SUTURES INTERMEDIATE* 20 0.04% 25 0.05% ANTERIOR SUTURES DIFFUSE* 10.00% ANTERIOR SUTURES SUSPICIOUS 8 0.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 83 0.16% 153 0.31% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 106 0.21% POSTERIOR SUTURES PUNCTATE* 308 0.61% 256 0.52% POSTERIOR SUTURES INTERMEDIATE* 280 0.55% 257 0.52% POSTERIOR SUTURES DIFFUSE* 18 0.04% 6 0.01% POSTERIOR SUTURES SUSPICIOUS 26 0.05% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 283 0.56% 465 0.94% POSTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 10.00% NUCLEUS (SIZE UNSPECIFIED)* 32 0.06% NUCLEUS PUNCTATE* 44 0.09% 52 0.11% NUCLEUS INTERMEDIATE* 89 0.18% 95 0.19% NUCLEUS DIFFUSE* 14 0.03% 7 0.01% NUCLEUS SUSPICIOUS 18 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 204 0.40% 252 0.51% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 50.01% ANTERIOR CAPSULE 17 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 39 0.08% ANTERIOR CAPSULE SUSPICIOUS 5 0.01% CAPSULAR PUNCTATE 25 0.05% 147 0.30% CAPSULAR INTERMEDIATE 19 0.04% 115 0.23% CAPSULAR DIFFUSE 1 0.00% 15 0.03% CAPSULAR SIGN. UNKNOWN 67 0.13% 532 1.07% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 40.01% POSTERIOR CAPSULE 173 0.34% POSTERIOR CAPSULE SIGN. UNKNOWN 60 0.12% POSTERIOR CAPSULE SUSPICIOUS 33 0.07% GENERALIZED CATARACT* 51 0.10% 22 0.04% GENERALIZED SUSPICIOUS 1 0.00% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.00% SUBLUXATION/LUXATION 12 0.02% 15 0.03% VITREOUS PERSISTENT HYALOID ARTERY 52 0.10% 53 0.11% PHPV/PTVL 15 0.03% 11 0.02% DEGENERATION (NO FURTHER SPECIFICATION) 49 0.10% 65 0.13% DEGENERATION ANTERIOR CHAMBER 20.00% DEGENERATION SYNERESIS 17 0.03% FUNDUS RETINAL ATROPHY--GENERALIZED 21 0.04% 23 0.05%

GOLDEN RETRIEVER

1991 - 1999 2000-2007 RETINAL ATROPHY--CENTRAL 1 0.00% RETINAL ATROPHY--SUSPICIOUS 55 0.11% 35 0.07% RETINAL DYSPLASIA FOCAL/FOLDS 481 0.95% 755 1.53% RETINAL DYSPLASIA GEOGRAPHIC 153 0.30% 294 0.59% RETINAL DYSPLASIA GENERALIZED/DETACHED 10 0.02% 13 0.03% CHOROIDAL HYPOPLASIA 6 0.01% 3 0.01% STAPHYLOMA / COLOBOMA 7 0.01% 1 0.00% RETINAL DETACHMENT 17 0.03% 4 0.01% RETINAL HEMORRHAGE 14 0.03% 4 0.01% OPTIC NERVE COLOBOMA 33 0.07% 18 0.04% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 27 0.05% 1 0.00% OPTIC NERVE HYPOPLASIA 50.01% MICROPAPILLA 1 0.00% 3 0.01% OTHER OTHER, INHERITED 498 0.99% 307 0.62% OTHER, NON -INHERITED 217 0.43% 2343 4.73% NORMAL NORMAL 37878 75.02% 38339 77.44%

GORDON SETTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Ectropion Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Distichiasis Not defined 5 Breeder option

D. Iris cysts Not defined 5 Breeder option

E. Persistent pupillary membranes iris to iris Not defined 1,6 Breeder option all other forms Not defined 6 NO

F. Cataract Not defined 1 NO

G. Persistent hyaloid Not defined 5 Breeder option artery

H. Retinal dysplasia Not defined 1 Breeder option - folds

I. Retinal atrophy Not defined 2-4 NO -generalized

Description and Comments

A. Ectropion

B. Entropion

In the Gordon setter, entropion may be associated with an exceptionally large palpebral fissure and laxity of the canthal structures. Central lower lid ectropion is then associated with entropion of the adjacent lid. This may cause severe ocular irritation.

C. Distichiasis

D. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Persistent hyaloid artery (PHA)

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

I. Retinal atrophy-generalized

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Magnusson H: Om nattblindhet hos hund sasom foljd afslaktkapsafvel (On night blindness in the dog following inbreeding). Svensk Vet Tidskr 14:462, 1909.

3. Mangusson H: Uber retinites pigmentosa und konsanguinitat beim hunde (On retinitis pigmentosa and consanguinity in dogs). Arch Vergl Ophthalmol 2:147, 1911.

4. Magnusson H: Noch ein fall von nachtblindheit beim hunde (Another case of night blindness in the dog). Graefes Arch Ophthal 93:404, 1917.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

GORDON SETTER

1991 - 1999 2000-2007 TOTAL NUMBER OF GORDON SETTER EXAMINED 735 691

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.14% EYELIDS ENTROPION 5 0.68% 4 0.58% ECTROPION 27 3.67% 8 1.16% DISTICHIASIS 9 1.22% 17 2.46% ECTOPIC CILIA 1 0.14% EURY/MACRO BLEPHARON 3 0.41% 3 0.43% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.54% 2 0.29% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.14% UVEA IRIS / CILIARY BODY CYSTS 1 0.14% 14 2.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 26 3.54% 35 5.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 5 0.68% 1 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.27% 1 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.14% 1 0.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 16 2.18% 16 2.32% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.14% ANTERIOR CORTEX PUNCTATE* 1 0.14% 2 0.29% ANTERIOR CORTEX INTERMEDIATE* 50.72% ANTERIOR CORTEX DIFFUSE* 3 0.41% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 0.68% 6 0.87% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.27% POSTERIOR CORTEX PUNCTATE* 1 0.14% 1 0.14% POSTERIOR CORTEX INTERMEDIATE* 3 0.41% 7 1.01% POSTERIOR CORTEX DIFFUSE* 1 0.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 5 0.68% 1 0.14% EQUATORIAL CORTEX PUNCTATE* 10.14% EQUATORIAL CORTEX INTERMEDIATE* 2 0.27% 1 0.14% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.14% 2 0.29% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.41% NUCLEUS (SIZE UNSPECIFIED)* 2 0.27% NUCLEUS PUNCTATE* 1 0.14% 2 0.29% NUCLEUS INTERMEDIATE* 1 0.14% 2 0.29% NUCLEUS DIFFUSE* 1 0.14% 1 0.14% NUCLEUS PUNCTATE SIGN. UNKNOWN 7 0.95% 4 0.58% ANTERIOR CAPSULE 1 0.14% CAPSULAR INTERMEDIATE 30.43% CAPSULAR SIGN. UNKNOWN 1 0.14% 10 1.45% POSTERIOR CAPSULE 3 0.41% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.27% GENERALIZED CATARACT* 1 0.14% 1 0.14% VITREOUS PERSISTENT HYALOID ARTERY 6 0.82% 3 0.43%

GORDON SETTER

1991 - 1999 2000-2007 PHPV/PTVL 20.29% DEGENERATION (NO FURTHER SPECIFICATION) 20.29% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.41% 3 0.43% RETINAL ATROPHY--SUSPICIOUS 10 1.36% RETINAL DYSPLASIA FOCAL/FOLDS 14 1.90% 9 1.30% RETINAL DYSPLASIA GEOGRAPHIC 3 0.41% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.14% RETINAL DETACHMENT 2 0.27% OPTIC NERVE COLOBOMA 10.14% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 7 0.95% OPTIC NERVE HYPOPLASIA 10.14% MICROPAPILLA 2 0.27% 5 0.72% OTHER OTHER, INHERITED 6 0.82% 2 0.29% OTHER, NON -INHERITED 2 0.27% 48 6.95% NORMAL NORMAL 596 81.09% 580 83.94%

GREAT DANE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Presumed 1,2 NO multiple ocular defects autosomal associated with partial dominant albinism

B. Distichiasis Not defined 1 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Entropion Not defined 1 Breeder option

E. Eury/Macroblepharon Not defined 6 Breeder option

F. Everted cartilage Not defined 1 Breeder option of third eyelid

G. Glaucoma Not defined 1,3,5 NO

H. Ciliary body cysts Not defined 4 Breeder option

I. Persistent pupillary Not defined 6 Breeder option membranes -iris to iris

J. Iris cysts Not defined 6 Breeder option

K. Cataract Not defined 1 NO

L. Retinal atrophy Not defined 1 NO -generalized

Description and Comments

A. Microphthalmia with multiple ocular defects associated with partial albinism

Multiple ocular defects are seen associated with partial albinism (white or light coat color) and deafness in Great Danes. The abnormalities are thought to stem from a common developmental defect. Ocular defects are anterior segment dysgenesis, equatorial staphylomas, microphthalmia, cortical cataracts, lens luxation, spherophakia, iris coloboma, and blue irides. An autosomal dominant mode of inheritance is suspected. The hearing loss is attributable to cochlea-saccular degeneration.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Ectropion

D. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Entropion and ectropion often occur together in this breed, associated with an abnormally large palpebral fissure.

E. Eury/Macroblepharon

F. Eversion of the cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

G. Glaucoma

H. Ciliary body cysts

Pigmented cysts arise from pigmented epithelial cells of the ciliary body. Ciliary body cysts may predispose to glaucoma in the Great Dane.

I. Persistent pupillary membranes (PPM)

J. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

K. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. The mode of inheritance in this breed has not been determined.

L. Retinal atrophy-generalized

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Great Dane breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Gwin RM et al: Multiple ocular defects associated with partial albinism and deafness in the dog. J Am Anim Hosp Assoc 17:401, 1981.

3. Barnett KC, Mason IK: Primary glaucoma in the Great Dane. Proc Am Coll Vet Ophthalmol 24:12, 1993.

4. Spiess BM, Bolliger JO, Guscetti F, et al: Multiple ciliary body cysts and secondary glaucoma in the Great Dane: a report of nine cases. Vet Ophthalmol 1:41-45, 1998.

5. Wood JLN, Lakhani KH, Mason IK, et al: Relationship of the degree of goniodysgenesis and other ocular measurements to glaucoma in Great Danes. Am J Vet Res 62:1493-1499, 2001.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

GREAT DANE

1991 - 1999 2000-2007 TOTAL NUMBER OF GREAT DANE EXAMINED 1010 2525

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10 0.99% 8 0.32% DRY EYE 10.04% GLAUCOMA 20.08% EYELIDS ENTROPION 22 2.18% 61 2.42% ECTROPION 22 2.18% 125 4.95% DISTICHIASIS 54 5.35% 138 5.47% EURY/MACRO BLEPHARON 5 0.50% 69 2.73% THIRD EYELID CARTILAGE ANOMALY/EVERSION 4 0.40% 38 1.50% GLAND PROLAPSE 1 0.10% 5 0.20% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 0.50% 11 0.44% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.10% 1 0.04% UVEA IRIS / CILIARY BODY CYSTS 5 0.50% 31 1.23% IRIS COLOBOMA 6 0.59% 6 0.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 22 2.18% 26 1.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.30% 8 0.32% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.30% 3 0.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 40.16% ENDOTHELIAL PIGMENT/NO PPM 10.04% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 102 10.10% 161 6.38% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.30% ANTERIOR CORTEX PUNCTATE* 6 0.59% 10 0.40% ANTERIOR CORTEX INTERMEDIATE* 13 1.29% 33 1.31% ANTERIOR CORTEX DIFFUSE* 6 0.59% 2 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 0.59% 24 0.95% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.40% POSTERIOR CORTEX PUNCTATE* 15 1.49% 29 1.15% POSTERIOR CORTEX INTERMEDIATE* 40 3.96% 61 2.42% POSTERIOR CORTEX DIFFUSE* 5 0.50% 6 0.24% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.40% 14 0.55% EQUATORIAL CORTEX PUNCTATE* 3 0.30% 4 0.16% EQUATORIAL CORTEX INTERMEDIATE* 8 0.79% 22 0.87% EQUATORIAL CORTEX DIFFUSE* 1 0.10% 2 0.08% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.20% 12 0.48% ANTERIOR SUTURES PUNCTATE* 1 0.10% 1 0.04% ANTERIOR SUTURES INTERMEDIATE* 1 0.10% 5 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.10% 3 0.12% POSTERIOR SUTURES PUNCTATE* 6 0.59% 8 0.32% POSTERIOR SUTURES INTERMEDIATE* 6 0.59% 10 0.40% POSTERIOR SUTURES DIFFUSE* 1 0.10% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.10% 5 0.20%

GREAT DANE

1991 - 1999 2000-2007 NUCLEUS (SIZE UNSPECIFIED)* 3 0.30% NUCLEUS PUNCTATE* 3 0.30% 5 0.20% NUCLEUS INTERMEDIATE* 8 0.79% 19 0.75% NUCLEUS DIFFUSE* 1 0.10% 1 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.20% 11 0.44% CAPSULAR PUNCTATE 90.36% CAPSULAR INTERMEDIATE 1 0.10% 10 0.40% CAPSULAR SIGN. UNKNOWN 3 0.30% 36 1.43% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 20.08% POSTERIOR CAPSULE 4 0.40% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.10% POSTERIOR CAPSULE SUSPICIOUS 1 0.10% GENERALIZED CATARACT* 11 1.09% 6 0.24% SUBLUXATION/LUXATION 4 0.40% 3 0.12% VITREOUS PERSISTENT HYALOID ARTERY 1 0.10% 4 0.16% PHPV/PTVL 3 0.30% 4 0.16% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.30% 7 0.28% DEGENERATION ANTERIOR CHAMBER 30.12% DEGENERATION SYNERESIS 40.16% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.10% 1 0.04% RETINAL ATROPHY--SUSPICIOUS 3 0.30% RETINAL DYSPLASIA FOCAL/FOLDS 10 0.99% 5 0.20% RETINAL DYSPLASIA GEOGRAPHIC 20.08% STAPHYLOMA / COLOBOMA 2 0.20% RETINAL DETACHMENT 10.04% OPTIC NERVE COLOBOMA 1 0.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.10% OPTIC NERVE HYPOPLASIA 10.04% MICROPAPILLA 10.04% OTHER OTHER, INHERITED 14 1.39% 16 0.63% OTHER, NON -INHERITED 1 0.10% 106 4.20% NORMAL NORMAL 745 73.76% 2006 79.45%

GREAT PYRENEES

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4 Breeder option

B. Entropion Not defined 2,3 Breeder option

C. Corneal dystrophy Not defined 8 Breeder option - epithelial/stromal

D. Persistent pupillary membranes - iris to iris Not defined 1,3,4 Breeder option - all other forms Not defined 4 NO

E. Cataract Not defined 1,3 NO

F. Retinal atrophy Presumed 2,3 NO - generalized autosomal recessive

G. Retinal dysplasia Presumed 2,3 NO - folds autosomal recessive

H. Retinal dysplasia Not defined 4,5 NO - geographic/ detached

I. Multifocal retinopathy Presumed 7 NO - cmr1 autosomal recessive

J. Micropapilla Not defined 6 Breeder option

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic) defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal atrophy-generalized

G. Retinal dysplasia- folds

H. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

I. Multifocal retinopathy

J. Micropapilla

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Great Pyrenees breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

5. Grahn B, Cullen CL: Retinopathy of Great Pyrenees dogs: fluorescein angiography, light microscopy and transmitting and scanning electron microscopy. Vet Ophthal 4(3),191, 2001.

6. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

7. Guziewicz KE, Zangerl B, Lindauer SJ, et al. Bestrophin gene mutations cause canine multifocal rertinopathy: A novel animal model for best disease. Investigative Ophthal & Visual Science,48:1959-1967,2007.

8. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

GREAT PYRENEES

1991 - 1999 2000-2007 TOTAL NUMBER OF GREAT PYRENEES EXAMINED 308 608

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 20.33% EYELIDS ENTROPION 7 2.27% 7 1.15% ECTROPION 20.33% DISTICHIASIS 5 1.62% 10 1.64% EURY/MACRO BLEPHARON 20.33% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.65% 8 1.32% DYSTROPHY--ENDOTHELIAL 30.49% UVEA IRIS / CILIARY BODY CYSTS 1 0.32% 2 0.33% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 73 23.70% 158 25.99% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.65% 6 0.99% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.65% 3 0.49% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 17 5.52% 38 6.25% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.65% ANTERIOR CORTEX PUNCTATE* 1 0.32% 6 0.99% ANTERIOR CORTEX INTERMEDIATE* 8 2.60% 13 2.14% ANTERIOR CORTEX DIFFUSE* 1 0.32% 1 0.16% ANTERIOR CORTEX SUSPICIOUS 2 0.65% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.65% 5 0.82% POSTERIOR CORTEX PUNCTATE* 5 1.62% 4 0.66% POSTERIOR CORTEX INTERMEDIATE* 14 2.30% POSTERIOR CORTEX SUSPICIOUS 1 0.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 6 1.95% 3 0.49% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.32% EQUATORIAL CORTEX PUNCTATE* 1 0.32% 4 0.66% EQUATORIAL CORTEX INTERMEDIATE* 8 2.60% 12 1.97% EQUATORIAL CORTEX SUSPICIOUS 1 0.32% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.97% 1 0.16% ANTERIOR SUTURES PUNCTATE* 30.49% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.16% POSTERIOR SUTURES PUNCTATE* 20.33% POSTERIOR SUTURES INTERMEDIATE* 30.49% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.33% NUCLEUS PUNCTATE* 1 0.32% 1 0.16% NUCLEUS INTERMEDIATE* 1 0.32% NUCLEUS DIFFUSE* 10.16% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 1.30% 4 0.66% CAPSULAR PUNCTATE 10.16% CAPSULAR INTERMEDIATE 40.66% CAPSULAR DIFFUSE 20.33% CAPSULAR SIGN. UNKNOWN 60.99% SUBLUXATION/LUXATION 10.16%

GREAT PYRENEES

1991 - 1999 2000-2007 VITREOUS PHPV/PTVL 10.16% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.32% 1 0.16% RETINAL ATROPHY--SUSPICIOUS 1 0.32% 2 0.33% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.97% 5 0.82% RETINAL DYSPLASIA GEOGRAPHIC 1 0.32% 11 1.81% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.32% 1 0.16% CHOROIDAL HYPOPLASIA 10.16% STAPHYLOMA / COLOBOMA 10.16% RETINAL DETACHMENT 40.66% OPTIC NERVE COLOBOMA 1 0.32% OPTIC NERVE HYPOPLASIA 50.82% MICROPAPILLA 60.99% OTHER OTHER, INHERITED 7 2.27% 5 0.82% OTHER, NON -INHERITED 1 0.32% 32 5.26% NORMAL NORMAL 183 59.42% 391 64.31%

GREATER SWISS MOUNTAIN DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary membranes -iris to iris Not defined 2,3,4 Breeder option -all other forms Not defined 4 NO

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 4 Breeder option -folds

Description and Comments

A. Distichiasis

B. Persistent pupillary membrane (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Greater Swiss Mountain dog breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

GREATER SWISS MOUNTAIN DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF GREATER SWISS MOUNTAIN DOG 386 1452 EXAMINED Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 3 0.78% 4 0.28% ECTROPION 1 0.26% DISTICHIASIS 139 36.01% 515 35.47% ECTOPIC CILIA 10.07% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 90.62% DYSTROPHY--ENDOTHELIAL 10.07% UVEA IRIS / CILIARY BODY CYSTS 10.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 9 2.33% 56 3.86% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.52% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 30.21% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.52% 2 0.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 20 5.18% 131 9.02% ANTERIOR CORTEX PUNCTATE* 4 1.04% 27 1.86% ANTERIOR CORTEX INTERMEDIATE* 8 2.07% 25 1.72% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 1.81% 89 6.13% POSTERIOR CORTEX PUNCTATE* 1 0.26% 23 1.58% POSTERIOR CORTEX INTERMEDIATE* 8 2.07% 42 2.89% POSTERIOR CORTEX DIFFUSE* 20.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.26% 10 0.69% EQUATORIAL CORTEX PUNCTATE* 3 0.78% 11 0.76% EQUATORIAL CORTEX INTERMEDIATE* 4 1.04% 39 2.69% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 1.30% 15 1.03% ANTERIOR SUTURES INTERMEDIATE* 10.07% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.76% POSTERIOR SUTURES PUNCTATE* 70.48% POSTERIOR SUTURES INTERMEDIATE* 70.48% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.52% 9 0.62% NUCLEUS PUNCTATE* 1 0.26% NUCLEUS INTERMEDIATE* 1 0.26% 6 0.41% NUCLEUS DIFFUSE* 10.07% NUCLEUS PUNCTATE SIGN. UNKNOWN 30.21% CAPSULAR PUNCTATE 10 0.69% CAPSULAR INTERMEDIATE 60.41% CAPSULAR SIGN. UNKNOWN 2 0.52% 21 1.45% GENERALIZED CATARACT* 20.14% SUBLUXATION/LUXATION 10.07% VITREOUS PERSISTENT HYALOID ARTERY 60.41% PHPV/PTVL 20.14% FUNDUS RETINAL ATROPHY--SUSPICIOUS 2 0.52% 1 0.07%

GREATER SWISS MOUNTAIN DOG

1991 - 1999 2000-2007 RETINAL DYSPLASIA FOCAL/FOLDS 1 0.26% 11 0.76% RETINAL DYSPLASIA GEOGRAPHIC 1 0.26% 3 0.21% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.07% OPTIC NERVE HYPOPLASIA 40.28% MICROPAPILLA 70.48% OTHER OTHER, INHERITED 3 0.78% 7 0.48% OTHER, NON -INHERITED 6 1.55% 57 3.93% NORMAL NORMAL 217 56.22% 787 54.20%

GREYHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Chronic superficial Not defined 1,2 NO keratitis/pannus

B. Lens luxation Not defined 7 NO

C. Cataract Not defined 6 NO

D. Vitreous Not defined 5 Breeder option degeneration

E. Persistent Not defined 4 NO hyperplastic primary vitreous (PHPV)

F. Retinal atrophy Not defined 1,3 NO -generalized

Description and Comments

A. Chronic superficial keratitis/Pannus

B. Lens luxation

C. Cataract

D. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

E. Persistent hyperplastic primary vitreous (PHPV)

F. Retinal atrophy-generalized

PRA in the greyhound may begin as early as 12 months of age, and affected dogs may progress to complete blindness at a relatively young age. In contrast to PRA in other dog breeds, nyctalopia (night blindness) is not an initial finding. In the early stages, the fundus has a characteristic “moth-eaten” appearance with patches of tapetal hyper-reflectivity alternating between areas of decreased reflectivity. In advanced stages, tapetal hyper- reflectivity is more diffuse.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Peiffer RL, Gelatt KN, Gwin RW: Chronic superficial keratitis (pannus) in related Greyhounds. Vet Med Small Anim Clin 72:35, 1977.

3. Slatter DH et al: Retinal degeneration in greyhounds. Aust Vet J 56:106, 1980.

4. Grimes TD, Mullaney J: Persistent hyperplastic primary vitreous in a Greyhound. Vet Rec 85: 607, 1969.

5. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

6. ACVO Genetics Committee, 2003-2004 and/or Data from CERF All-Breeds Report, 2005.

7. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

GREYHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF GREYHOUND EXAMINED 276 190

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.36% DRY EYE 10.53% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.36% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 1.09% 2 1.05% DYSTROPHY--ENDOTHELIAL 10.53% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 7 2.54% 8 4.21% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 10.53% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.72% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 3.62% 8 4.21% ANTERIOR CORTEX PUNCTATE* 3 1.09% 2 1.05% ANTERIOR CORTEX INTERMEDIATE* 2 0.72% 1 0.53% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 2.17% 4 2.11% POSTERIOR CORTEX INTERMEDIATE* 3 1.09% 3 1.58% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.72% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.36% EQUATORIAL CORTEX INTERMEDIATE* 2 0.72% 2 1.05% ANTERIOR SUTURES INTERMEDIATE* 10.53% NUCLEUS (SIZE UNSPECIFIED)* 1 0.36% NUCLEUS PUNCTATE* 10.53% NUCLEUS INTERMEDIATE* 1 0.36% 1 0.53% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.36% 1 0.53% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.72% CAPSULAR PUNCTATE 1 0.36% CAPSULAR INTERMEDIATE 10.53% GENERALIZED CATARACT* 10.53% SUBLUXATION/LUXATION 21.05% VITREOUS PERSISTENT HYALOID ARTERY 10.53% DEGENERATION (NO FURTHER SPECIFICATION) 5 1.81% 5 2.63% DEGENERATION ANTERIOR CHAMBER 10.53% DEGENERATION SYNERESIS 10.53% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.36% 1 0.53% RETINAL ATROPHY--CENTRAL 1 0.36% RETINAL ATROPHY--SUSPICIOUS 31.58% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.36% 2 1.05% RETINAL DYSPLASIA GEOGRAPHIC 10.53% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.36% MICROPAPILLA 2 0.72%

GREYHOUND

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 10 3.62% 1 0.53% OTHER, NON -INHERITED 2 0.72% 11 5.79% NORMAL NORMAL 234 84.78% 156 82.11%

HARRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes - iris to iris Not defined 1,2 Breeder option - all other forms Not defined 2 NO

B. Cataract Not defined 3 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Harrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All Breeds Report, 2000- 2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

HARRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF HARRIER EXAMINED 106 237

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 0.94% DISTICHIASIS 1 0.94% 1 0.42% CORNEA CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.42% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 6.60% 5 2.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.94% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.42% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 83.38% ANTERIOR CORTEX INTERMEDIATE* 31.27% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.94% POSTERIOR CORTEX PUNCTATE* 20.84% POSTERIOR CORTEX INTERMEDIATE* 31.27% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 1.89% 1 0.42% NUCLEUS PUNCTATE* 10.42% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.42% CAPSULAR SIGN. UNKNOWN 20.84% FUNDUS RETINAL ATROPHY--SUSPICIOUS 20.84% STAPHYLOMA / COLOBOMA 1 0.94% OPTIC NERVE COLOBOMA 1 0.94% OTHER OTHER, INHERITED 2 1.89% 1 0.42% OTHER, NON -INHERITED 11 4.64% NORMAL NORMAL 93 87.74% 221 93.25%

HAVANESE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary membranes - iris to iris Not defined 1,2 Breeder option - all other forms Not defined 2 NO

C. Cataract Not defined 1,4 NO

D. Vitreous Not defined 1 Breeder option degeneration

E. Retinal dysplasia Not defined 3 Breeder option - folds

F. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

C. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume

cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. The exact frequency and significance of cataracts in the breed is not known.

D. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness .

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

F. Retinal atrophy-generalized

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Havanese breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

4. Starr AN, Famula TR, Markward NJ, et al: Hereditary evaluation of multiple developmental abnormalities in Havanese dog breed. J Heredity 98(5):510-517, 2007.

HAVANESE

1991 - 1999 2000-2007 TOTAL NUMBER OF HAVANESE EXAMINED 1557 13230

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 30.02% DRY EYE 1 0.06% 1 0.01% EYELIDS ENTROPION 2 0.13% 11 0.08% ECTROPION 1 0.06% 2 0.02% DISTICHIASIS 60 3.85% 634 4.79% ECTOPIC CILIA 1 0.06% 5 0.04% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.01% GLAND PROLAPSE 6 0.39% 52 0.39% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.26% 42 0.32% DYSTROPHY--ENDOTHELIAL 10.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.01% UVEA IRIS / CILIARY BODY CYSTS 20.02% IRIS COLOBOMA 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 70 4.50% 960 7.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.13% 20 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 12 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 17 0.13% ENDOTHELIAL PIGMENT/NO PPM 20.02% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 68 4.37% 349 2.64% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.26% ANTERIOR CORTEX PUNCTATE* 6 0.39% 48 0.36% ANTERIOR CORTEX INTERMEDIATE* 10 0.64% 54 0.41% ANTERIOR CORTEX DIFFUSE* 1 0.06% 9 0.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 18 1.16% 155 1.17% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.32% POSTERIOR CORTEX PUNCTATE* 10 0.64% 42 0.32% POSTERIOR CORTEX INTERMEDIATE* 14 0.90% 100 0.76% POSTERIOR CORTEX DIFFUSE* 3 0.19% 14 0.11% POSTERIOR CORTEX SUSPICIOUS 1 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 8 0.51% 88 0.67% EQUATORIAL CORTEX PUNCTATE* 1 0.06% 19 0.14% EQUATORIAL CORTEX INTERMEDIATE* 6 0.39% 25 0.19% EQUATORIAL CORTEX DIFFUSE* 2 0.13% 2 0.02% EQUATORIAL CORTEX SUSPICIOUS 2 0.13% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.19% 33 0.25% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.01% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.13% ANTERIOR SUTURES PUNCTATE* 50.04% ANTERIOR SUTURES INTERMEDIATE* 2 0.13% 3 0.02%

HAVANESE

1991 - 1999 2000-2007 ANTERIOR SUTURES DIFFUSE* 10.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 0.39% 22 0.17% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 7 0.45% POSTERIOR SUTURES PUNCTATE* 7 0.45% 76 0.57% POSTERIOR SUTURES INTERMEDIATE* 3 0.19% 44 0.33% POSTERIOR SUTURES DIFFUSE* 2 0.13% 5 0.04% POSTERIOR SUTURES SUSPICIOUS 3 0.19% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 34 2.18% 343 2.59% NUCLEUS PUNCTATE* 80.06% NUCLEUS INTERMEDIATE* 1 0.06% 9 0.07% NUCLEUS DIFFUSE* 1 0.06% 2 0.02% NUCLEUS PUNCTATE SIGN. UNKNOWN 20 0.15% ANTERIOR CAPSULE 1 0.06% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.13% CAPSULAR PUNCTATE 2 0.13% 23 0.17% CAPSULAR INTERMEDIATE 36 0.27% CAPSULAR DIFFUSE 30.02% CAPSULAR SIGN. UNKNOWN 4 0.26% 108 0.82% POSTERIOR CAPSULE 1 0.06% POSTERIOR CAPSULE SIGN. UNKNOWN 3 0.19% POSTERIOR CAPSULE SUSPICIOUS 2 0.13% GENERALIZED CATARACT* 12 0.77% 30 0.23% SUBLUXATION/LUXATION 90.07% VITREOUS PERSISTENT HYALOID ARTERY 3 0.19% 20 0.15% PHPV/PTVL 20.02% DEGENERATION (NO FURTHER SPECIFICATION) 23 1.48% 169 1.28% DEGENERATION ANTERIOR CHAMBER 20 0.15% DEGENERATION SYNERESIS 59 0.45% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.13% 6 0.05% RETINAL ATROPHY--SUSPICIOUS 13 0.83% 54 0.41% RETINAL DYSPLASIA FOCAL/FOLDS 8 0.51% 70 0.53% RETINAL DYSPLASIA GEOGRAPHIC 12 0.09% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.01% CHOROIDAL HYPOPLASIA 20.02% STAPHYLOMA / COLOBOMA 30.02% RETINAL DETACHMENT 5 0.32% 6 0.05% RETINAL HEMORRHAGE 10.01% OPTIC NERVE COLOBOMA 1 0.06% 4 0.03% OPTIC NERVE HYPOPLASIA 20.02% OTHER OTHER, INHERITED 8 0.51% 44 0.33% OTHER, NON -INHERITED 10 0.64% 468 3.54% NORMAL NORMAL 1257 80.73% 10986 83.04%

IBIZAN HOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 3,4 Breeder option membranes- - iris to iris

B. Cataract Not defined 1 NO

C. Retinal dysplasia Presumed 1,2 Breeder option - folds autosomal recessive

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Ibizan Hound breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

IBIZAN HOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF IBIZAN HOUND EXAMINED 165 384

Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 1 0.61% EYELIDS DISTICHIASIS 2 1.21% 2 0.52% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.26% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.61% 1 0.26% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 7.27% 28 7.29% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 5 3.03% 13 3.39% ANTERIOR CORTEX PUNCTATE* 1 0.61% 1 0.26% ANTERIOR CORTEX INTERMEDIATE* 1 0.61% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.61% 3 0.78% POSTERIOR CORTEX INTERMEDIATE* 30.78% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.61% EQUATORIAL CORTEX INTERMEDIATE* 20.52% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.61% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.26% NUCLEUS (SIZE UNSPECIFIED)* 2 1.21% NUCLEUS PUNCTATE* 30.78% NUCLEUS INTERMEDIATE* 1 0.61% 5 1.30% NUCLEUS DIFFUSE* 20.52% NUCLEUS PUNCTATE SIGN. UNKNOWN 10 6.06% 11 2.86% ANTERIOR CAPSULE SUSPICIOUS 1 0.61% CAPSULAR PUNCTATE 10.26% CAPSULAR INTERMEDIATE 10.26% CAPSULAR SIGN. UNKNOWN 61.56% POSTERIOR CAPSULE 1 0.61% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.61% VITREOUS PERSISTENT HYALOID ARTERY 10.26% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.21% 1 0.26% DEGENERATION ANTERIOR CHAMBER 10.26% FUNDUS RETINAL ATROPHY--GENERALIZED 10.26% RETINAL ATROPHY--SUSPICIOUS 1 0.61% RETINAL DYSPLASIA FOCAL/FOLDS 4 2.42% 4 1.04% RETINAL DYSPLASIA GEOGRAPHIC 20.52% RETINAL DETACHMENT 10.26% OPTIC NERVE COLOBOMA 20.52% OTHER OTHER, NON -INHERITED 1 0.61% 12 3.13%

IBIZAN HOUND

1991 - 1999 2000-2007 NORMAL NORMAL 128 77.58% 337 87.76%

ICELANDIC SHEEPDOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option membranes -iris to iris

B. Retinal dysplasia Not defined 2 Breeder option - folds

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Icelandic Sheepdog breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

2. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

ICELANDIC SHEEPDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF ICELANDIC SHEEPDOG EXAMINED 23 489

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 51.02% DISTICHIASIS 1 4.35% 2 0.41% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 27 5.52% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.41% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 4.35% 2 0.41% ANTERIOR CORTEX INTERMEDIATE* 1 4.35% ANT. CORTEX PUNCT. SIGN. UNKNOWN 40.82% POSTERIOR CORTEX INTERMEDIATE* 1 4.35% 1 0.20% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.20% EQUATORIAL CORTEX INTERMEDIATE* 1 4.35% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 8.70% POSTERIOR SUTURES INTERMEDIATE* 20.41% CAPSULAR INTERMEDIATE 10.20% CAPSULAR SIGN. UNKNOWN 30.61% VITREOUS PERSISTENT HYALOID ARTERY 10.20% DEGENERATION SYNERESIS 10.20% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 4.35% 4 0.82% RETINAL DYSPLASIA GEOGRAPHIC 10.20% OTHER OTHER, INHERITED 10.20% OTHER, NON -INHERITED 22 4.50% NORMAL NORMAL 18 78.26% 461 94.27%

IRISH RED AND WHITE SETTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Retinal atrophy- Autosomal * - Rod-cone dysplasia recessive type 1 (rcd1)

C. Retinal dysplasia Not defined 1 Breeder option - folds

* A mutation-based DNA test is available.

Description and Comments

A. Distichiasis

B. Retinal atrophy - rod-cone dysplasia, type 1 (rcd1)

A form of PRA identified in Irish setters and Irish Red and White Setters. Clinical night blindness is observed as early as 6 weeks of age progressing to total blindness by one year. It may be diagnosed as early as 24 days with an ERG. Histologically the disease can be detected by 6 weeks. The disorder is caused by a mutation present in exon 21/codon 807 of the cGMP PDE Beta gene.

A mutation-based gene test is now available that will unequivocally identify genetically normal, affected and carrier dogs. The test is accurate only for this mutation and is of no value in identifying other forms of PRA. The contact for testing is Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com. Results are registered through the Canine DNA Registry administered by CERF.

For DNA testing also contact: Animal Health Trust (UK): website: www.aht.org.uk.

C. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Irish Red and White Setter breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

IRISH RED AND WHITE SETTER

1991 - 1999 2000-2007 TOTAL NUMBER OF IRISH RED AND WHITE SETTER EXAMINED 65 119

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 6 9.23% 8 6.72% CORNEA CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 21.68% UVEA IRIS / CILIARY BODY CYSTS 10.84% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 43.36% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 1.54% 3 2.52% ANTERIOR CORTEX PUNCTATE* 10.84% ANTERIOR CORTEX INTERMEDIATE* 10.84% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 3.08% 3 2.52% POSTERIOR CORTEX PUNCTATE* 10.84% POSTERIOR CORTEX INTERMEDIATE* 10.84% ANTERIOR SUTURES PUNCTATE* 10.84% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 1.54% POSTERIOR SUTURES INTERMEDIATE* 1 1.54% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.84% SUBLUXATION/LUXATION 10.84% VITREOUS PHPV/PTVL 10.84% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 1 1.54% 1 0.84% RETINAL DYSPLASIA GEOGRAPHIC 21.68% OTHER OTHER, INHERITED 1 1.54% OTHER, NON -INHERITED 1 1.54% 3 2.52% NORMAL NORMAL 54 83.08% 103 86.55%

IRISH SETTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1,26 Breeder option

B. Entropion Not defined 1 Breeder option

C. Everted cartilage Not defined 1 Breeder option of the third eyelid

D. Persistent pupillary Not defined 1 Breeder option membranes

E. Cataract Not defined 1 NO

F. Persistent hyaloid Not defined 1 Breeder option artery

G. Retinal atrophy Autosomal 1-23 NO - Rod-cone dysplasia recessive type 1 (rcd1)

H. Retinal atrophy Presumed 1-23, 27 NO - generalized autosomal recessive

I. Amblyopia with Autosomal 24,25 NO quadriplegia recessive

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In the Irish Setter, the entropion usually involves the lower eyelids.

C. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Persistent hyaloid artery (PHA)

G. Retinal atrophy - rod-cone dysplasia, type 1 (rcd1)

A form of PRA identified in Irish setters. Clinical night blindness is observed as early as 6 weeks of age progressing to total blindness by one year. It may be diagnosed as early as 24 days with an ERG. Histologically the disease can be detected by 6 weeks. The disorder is caused by a mutation present in exon 21/codon 807 of the cGMP PDE Beta gene.

For DNA testing also contact: Animal Health Trust (UK): website: www.aht.org.uk.

H. Retinal atrophy - generalized

In the Irish setter, a later form of progressive retinal atrophy has been observed by several ophthalmologists at 4-5 years of age. Cases seen in this category appear to advance more rapidly than those with rod-cone dysplasia.

I. Amblyopia with quadriplegia

A congenital quadriplegia and amblyopia. The main symptoms include inability to stand or walk, amblyopia, tremor, nystagmus and possible seizures. Pathologic lesions are confined to the cerebellum. The condition was shown to be due to a fully penetrant autosomal recessive gene that is post-natally lethal in the homozygote.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Hodgman SS et al: Progressive retinal atrophy in dogs I. The disease of Irish Setters (rcd). Vet Rec 61:185, 1949.

3. Parry HB: Degenerations of dog retina II. Progressive retinal atrophy of hereditary origin. Br J Ophthalmol 37:487, 1953.

4. Aguirre GD, Rubin LF: Rod-cone dysplasia (progressive retinal atrophy) in Irish setters. J Am Vet Med Assoc 166:157, 1975.

5. Aguirre GD, Farber D, Lolley R, et al: Rod-cone dysplasia in Irish setters. A defect in cyclic GMP metabolism in visual cells. Science 201:1133, 1978.

6. Lewis DG: Reappearance of PRA in the Irish setter. Vet Rec 101:468, 1977.

7. Liu YP, et al: Involvement of cyclic GMP phosphodiesterase activator in an hereditary retinal degeneration. Nature 280: 62, 1979.

8. Aquirre GD, Farber D, Lolley R, et al: Retinal degeneration in the dog III: Abnormal cyclic nucleotide metabolism in rod-cone dysplasia. Exp Eye Res 35:625, 1982.

9. Lee, RH, Lieberman, BS, Hurwitz, RL: Phosphodiesterase probes show distinct defects in rd mice and Irish setter dog disorders. Invest Ophthal Vis Sci 26: 1569, 1985.

10. Lolley RN, Lee RH, Hurwitz RL: Biochemical and immunological characteristics of photoreceptor phosphodiesterase in inherited retinal degeneration of rd mice and affected Irish setter dogs. In LaVail MM, Hollyfield JG, Anderson RE (eds): Retinal Degeneration: Experimental and Clinical Studies. New York, Alan R. Liss, pp133, 1985.

11. Schmidt SY, Aguirre GD: Reduction in taurine secondary to photoreceptor loss in Irish setters with rod-cone dysplasia. Invest Ophthalmol Vis Sci 26:679, 1985.

12. Fletcher RT, Sanyal S, Krishna G, et al: Genetic expression of cyclic GMP phosphodiesterase activity defines abnormal photoreceptor differentiation in neurological mutants of inherited retinal degeneration. J Neurochem 46:1240, 1986

13. Schmidt SY, et al: Deficiency in light-dependent opsin phosphorylation in Irish setters with rod-cone dysplasia. Invest Ophthalmol Vis Sci 27:1551, 1986.

14. Barbehenn E, Gagnon C, Noelker D, et al: Inherited rod-cone dysplasia: Abnormal distribution of cyclic GMP in visual cells of affected Irish setters. Exp Eye Res 46:149, 1988.

15. Cunnick J, Rider M, Takemoto LJ, et al: Rod-cone dysplasia in Irish setters. Presence of an altered rhodopsin. Biochem J 250:335, 1988.

16. Farber DB, Danciger JS, Aguirre GD: Early mRNA defect in Irish setter dog retina. Invest Ophthalmol Vis Sci (Suppl) 31:310, 1990.

17. Farber DB, Danciger JS, Aguirre GD: The B subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron 9:349, 1992.

18. Clement PJM, Gregory CY, Petersen-Jones SM, et al: Confirmation of the rod cGMP phosphodiesterase B (PDEB) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr Eye Res 12:861, 1993.

19. Suber ML, Pittler SJ, Qin N, et al: Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase B-subunit gene. Proc Natl Acad Sci 90:3968, 1993

20. Ray K, Baldwin VJ, Acland G, et al: Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase B gene and rcd1. Invest Ophthalmol Vis Sci 35:4291, 1994.

21. Ray K, Baldwin VJ, Acland G, et al: Molecular diagnostic tests for ascertainment of genotype at the rod-cone dysplasia 1 (rcd 1) locus in Irish setters. Curr Eye Res 14:243, 1995.

22. Aguirre, Gustavo: Announcement from the James A. Baker Institute for Animal Health, Cornell University, Ithaca, NY 14853; March 14, 1994

23. Petersen-Jones SM, Clements PJM, Barnett KC, et al: Incidence of the gene mutation causal for rod-cone dysplasia type I in Irish setters in the UK. J Small Anim Pract 36:310, 1995.

24. Palmer AC, Payne JE, Wallace ME: Hereditary quadriplegia and amblyopia in the Irish setter. J Small Anim Pract 14:343, 1973.

25. Sakai T, Harashima T, Yamamura H, et al: Two cases of hereditary quadriplegia and amblyopia in a litter of Irish setters. J Small Anim Pract 35:221, 1994.

26. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

27. Djajdiningrat-Laaner SC, Boeve MH, et al: Familial non-rcd 1 generalized retinal degeneration in Irish Setters. J Sm An Prac 113, 2002.

IRISH SETTER

1991 - 1999 2000-2007 TOTAL NUMBER OF IRISH SETTER EXAMINED 1032 501

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.20% GLAUCOMA 1 0.10% EYELIDS ENTROPION 31 3.00% 9 1.80% ECTROPION 6 0.58% 2 0.40% DISTICHIASIS 53 5.14% 36 7.19% ECTOPIC CILIA 1 0.10% EURY/MACRO BLEPHARON 2 0.19% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.10% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 0.29% 1 0.20% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.20% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.10% UVEA IRIS / CILIARY BODY CYSTS 20.40% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 28 2.71% 32 6.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.29% 2 0.40% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.48% ENDOTHELIAL PIGMENT/NO PPM 10.20% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 46 4.46% 16 3.19% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.10% ANTERIOR CORTEX PUNCTATE* 1 0.10% ANTERIOR CORTEX INTERMEDIATE* 9 0.87% 6 1.20% ANTERIOR CORTEX DIFFUSE* 20.40% ANTERIOR CORTEX SUSPICIOUS 1 0.10% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11 1.07% 15 2.99% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.68% POSTERIOR CORTEX PUNCTATE* 4 0.39% 2 0.40% POSTERIOR CORTEX INTERMEDIATE* 7 0.68% 6 1.20% POSTERIOR CORTEX DIFFUSE* 20.40% POST. CORTEX PUNCT. SIGN. UNKNOWN 9 0.87% 1 0.20% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 3 0.29% EQUATORIAL CORTEX PUNCTATE* 1 0.10% 1 0.20% EQUATORIAL CORTEX INTERMEDIATE* 1 0.10% 2 0.40% EQUATORIAL CORTEX DIFFUSE* 10.20% EQUATORIAL CORTEX SUSPICIOUS 1 0.10% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.19% 2 0.40% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.10% ANTERIOR SUTURES INTERMEDIATE* 2 0.19% 1 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.10% 2 0.40% POSTERIOR SUTURES PUNCTATE* 1 0.10% 1 0.20% POSTERIOR SUTURES INTERMEDIATE* 3 0.29% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.29% 7 1.40%

IRISH SETTER

1991 - 1999 2000-2007 NUCLEUS (SIZE UNSPECIFIED)* 3 0.29% NUCLEUS PUNCTATE* 10.20% NUCLEUS INTERMEDIATE* 1 0.10% 7 1.40% NUCLEUS DIFFUSE* 2 0.19% NUCLEUS SUSPICIOUS 3 0.29% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.29% ANTERIOR CAPSULE 3 0.29% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.10% CAPSULAR PUNCTATE 51.00% CAPSULAR INTERMEDIATE 10.20% CAPSULAR SIGN. UNKNOWN 2 0.19% 8 1.60% POSTERIOR CAPSULE 11 1.07% POSTERIOR CAPSULE SIGN. UNKNOWN 8 0.78% POSTERIOR CAPSULE SUSPICIOUS 2 0.19% GENERALIZED CATARACT* 6 0.58% 2 0.40% GENERALIZED SUSPICIOUS 1 0.10% SUBLUXATION/LUXATION 10.20% VITREOUS PERSISTENT HYALOID ARTERY 15 1.45% 5 1.00% PHPV/PTVL 4 0.39% 3 0.60% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.29% 1 0.20% FUNDUS RETINAL ATROPHY--GENERALIZED 6 0.58% 3 0.60% RETINAL ATROPHY--SUSPICIOUS 4 0.39% 2 0.40% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.39% RETINAL DYSPLASIA GEOGRAPHIC 1 0.10% OPTIC NERVE COLOBOMA 1 0.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.39% OTHER OTHER, INHERITED 15 1.45% 3 0.60% OTHER, NON -INHERITED 2 0.19% 28 5.59% NORMAL NORMAL 801 77.62% 396 79.04%

IRISH TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

Description and Comments

A. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Irish Terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

IRISH TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF IRISH TERRIER EXAMINED 29 30

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 13.33% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 3.45% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 13.33% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 3.45% 2 6.67% ANTERIOR CORTEX INTERMEDIATE* 13.33% NUCLEUS INTERMEDIATE* 13.33% NUCLEUS DIFFUSE* 1 3.45% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 6.90% CAPSULAR INTERMEDIATE 13.33% CAPSULAR SIGN. UNKNOWN 13.33% OTHER OTHER, NON -INHERITED 13.33% NORMAL NORMAL 25 86.21% 25 83.33%

IRISH WATER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Persistent pupillary membranes -iris to iris Not defined 2,3 Breeder option -all other forms Not defined 2 NO

D. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

B. Entropion

A conformational defect resulting in an "in-rolling" of one or more of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull.

C. Persistent pupillary membranes (PPM)

D. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Irish Water Spaniel breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

IRISH WATER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF IRISH WATER SPANIEL EXAMINED 197 342

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 2 1.02% 4 1.17% DISTICHIASIS 55 27.92% 70 20.47% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.29% UVEA IRIS / CILIARY BODY CYSTS 10.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.51% 4 1.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.51% 1 0.29% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 5 2.54% 20 5.85% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 1.52% ANTERIOR CORTEX PUNCTATE* 20.58% ANTERIOR CORTEX INTERMEDIATE* 1 0.51% 9 2.63% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.51% 7 2.05% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.29% POSTERIOR CORTEX PUNCTATE* 20.58% POSTERIOR CORTEX INTERMEDIATE* 15 4.39% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.51% 5 1.46% EQUATORIAL CORTEX PUNCTATE* 10.29% EQUATORIAL CORTEX INTERMEDIATE* 1 0.51% 5 1.46% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20.58% ANTERIOR SUTURES INTERMEDIATE* 10.29% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.58% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.51% 4 1.17% NUCLEUS INTERMEDIATE* 30.88% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 1.02% CAPSULAR INTERMEDIATE 41.17% CAPSULAR SIGN. UNKNOWN 1 0.51% 8 2.34% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.51% VITREOUS PERSISTENT HYALOID ARTERY 20.58% DEGENERATION (NO FURTHER SPECIFICATION) 10.29% DEGENERATION SYNERESIS 10.29% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.51% 3 0.88% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.51% 1 0.29% RETINAL DYSPLASIA GEOGRAPHIC 10.29% RETINAL DETACHMENT 10.29% OTHER OTHER, INHERITED 4 2.03% OTHER, NON -INHERITED 11 3.22% NORMAL NORMAL 139 70.56% 247 72.22%

IRISH WOLFHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Everted cartilage Not defined 1 Breeder option of the third eyelid

C. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

D. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - all other forms Not defined 2 NO

E. Iris cysts Not defined 1 Breeder option

F. Cataract Not defined 1 NO

G. Micropapilla Not defined 1 Breeder option

H. Retinal atrophy Presumed 2 NO - generalized autosomal recessive

I. Retinal dysplasia Not defined 3,4 Breeder option - folds

J. Retinal dysplasia Not defined 5 NO - geographic

Description and Comments

A. Distichiasis

B. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

C. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

E. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

F. Cataract

G. Micropapilla

Micropapilla refers to a small optic disc which is not associated with vision impairment. Optic nerve hypoplasia refers to a congenital defect of the optic nerve which causes blindness and abnormal pupil response in the affected eye. May be difficult to differentiate between micropapilla and optic nerve hypoplasia on a routine (dilated) screening ophthalmoscopic exam.

H. Retinal atrophy-generalized

This is a typical PRA seen in Irish Wolfhounds in Europe. Onset is early with blindness developing in the young adult (2-3 years of age). The condition is being investigated by Dr. Petersen-Jones, Department of Small Animal Clinical Sciences, Michigan State University, D-208 Veterinary Medical Center, East Lansing, MI 48824-1314. Tel: 517-353-3278. E-mail [email protected].

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

J. Retinal dysplasia- geographic

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Irish Wolfhound breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Petersen-Jones, SM: Personal communication 1999.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

IRISH WOLFHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF IRISH WOLFHOUND EXAMINED 511 572

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.17% EYELIDS ENTROPION 4 0.78% 1 0.17% DISTICHIASIS 14 2.74% 38 6.64% THIRD EYELID CARTILAGE ANOMALY/EVERSION 5 0.98% 6 1.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 9 1.76% 14 2.45% DYSTROPHY--ENDOTHELIAL 2 0.39% UVEA IRIS / CILIARY BODY CYSTS 11 2.15% 40 6.99% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 1.57% 5 0.87% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.59% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.98% 3 0.52% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 3 0.59% 1 0.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 44 8.61% 30 5.24% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.20% ANTERIOR CORTEX PUNCTATE* 2 0.39% 3 0.52% ANTERIOR CORTEX INTERMEDIATE* 4 0.78% 2 0.35% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 8 1.40% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 7 1.37% POSTERIOR CORTEX PUNCTATE* 8 1.57% 7 1.22% POSTERIOR CORTEX INTERMEDIATE* 15 2.94% 8 1.40% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 6 1.05% EQUATORIAL CORTEX PUNCTATE* 10.17% EQUATORIAL CORTEX INTERMEDIATE* 2 0.39% 2 0.35% EQUATORIAL CORTEX DIFFUSE* 1 0.20% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 3 0.52% ANTERIOR SUTURES PUNCTATE* 1 0.20% ANTERIOR SUTURES INTERMEDIATE* 1 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.20% 1 0.17% POSTERIOR SUTURES PUNCTATE* 5 0.98% 3 0.52% POSTERIOR SUTURES INTERMEDIATE* 6 1.17% 4 0.70% POSTERIOR SUTURES DIFFUSE* 2 0.39% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.59% 2 0.35% NUCLEUS (SIZE UNSPECIFIED)* 2 0.39% NUCLEUS PUNCTATE* 1 0.20% 2 0.35% NUCLEUS INTERMEDIATE* 2 0.39% 6 1.05% NUCLEUS DIFFUSE* 10.17% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 0.78% 2 0.35% ANTERIOR CAPSULE 1 0.20% CAPSULAR PUNCTATE 20.35% CAPSULAR INTERMEDIATE 10.17% CAPSULAR SIGN. UNKNOWN 13 2.27%

IRISH WOLFHOUND

1991 - 1999 2000-2007 POSTERIOR CAPSULE 1 0.20% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.39% VITREOUS PERSISTENT HYALOID ARTERY 1 0.20% 4 0.70% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.20% 2 0.35% DEGENERATION SYNERESIS 10.17% FUNDUS RETINAL ATROPHY--CENTRAL 1 0.20% RETINAL ATROPHY--SUSPICIOUS 10.17% RETINAL DYSPLASIA FOCAL/FOLDS 5 0.98% 13 2.27% RETINAL DYSPLASIA GEOGRAPHIC 2 0.39% 7 1.22% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.20% 1 0.17% RETINAL DETACHMENT 1 0.20% RETINAL HEMORRHAGE 1 0.20% OPTIC NERVE COLOBOMA 1 0.20% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 16 3.13% OPTIC NERVE HYPOPLASIA 40.70% MICROPAPILLA 2 0.39% 6 1.05% OTHER OTHER, INHERITED 10 1.96% 3 0.52% OTHER, NON -INHERITED 4 0.78% 50 8.74% NORMAL NORMAL 382 74.76% 430 75.17%

ITALIAN GREYHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 4,5 Breeder option membranes - iris to iris

B. Cataract Not defined 1 NO

C. Lens luxation Not defined 2 NO

D. Vitreous Not defined 1,2 Breeder option degeneration

E. Persistent hyaloid Not defined 3 Breeder option artery

F. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

In the Italian Greyhound, posterior subcapsular and cortical cataracts at two to three years of age appear to be the more common location of occurrence, with progression noted in an undetermined percentage of dogs.

C. Lens luxation

D. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

E. Persistent hyaloid artery (PHA)

F. Retinal atrophy-generalized

Progressive retinal atrophy in the Italian Greyhound is relatively uncommon. It has been observed in dogs in the advanced stage by four to five years of age.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Italian Greyhound breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

ITALIAN GREYHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF ITALIAN GREYHOUND EXAMINED 1689 3459

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 4 0.24% 8 0.23% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 0.18% 11 0.32% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.12% 2 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.03% UVEA IRIS / CILIARY BODY CYSTS 10.03% IRIS COLOBOMA 1 0.06% 4 0.12% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 0.30% 27 0.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 4 0.24% 2 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.06% 4 0.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 3 0.18% 2 0.06% ENDOTHELIAL PIGMENT/NO PPM 10.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 100 5.92% 240 6.94% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.30% ANTERIOR CORTEX PUNCTATE* 20 1.18% 37 1.07% ANTERIOR CORTEX INTERMEDIATE* 25 1.48% 89 2.57% ANTERIOR CORTEX DIFFUSE* 2 0.12% 8 0.23% ANT. CORTEX PUNCT. SIGN. UNKNOWN 32 1.89% 68 1.97% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.47% POSTERIOR CORTEX PUNCTATE* 11 0.65% 32 0.93% POSTERIOR CORTEX INTERMEDIATE* 23 1.36% 79 2.28% POSTERIOR CORTEX DIFFUSE* 2 0.12% 5 0.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.24% 17 0.49% EQUATORIAL CORTEX PUNCTATE* 4 0.24% 14 0.40% EQUATORIAL CORTEX INTERMEDIATE* 28 1.66% 47 1.36% EQUATORIAL CORTEX DIFFUSE* 40.12% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.30% 15 0.43% ANTERIOR SUTURES PUNCTATE* 20.06% ANTERIOR SUTURES INTERMEDIATE* 4 0.24% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.12% 5 0.14% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.06% POSTERIOR SUTURES PUNCTATE* 80.23% POSTERIOR SUTURES INTERMEDIATE* 2 0.12% 7 0.20% POSTERIOR SUTURES DIFFUSE* 1 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.18% 14 0.40% NUCLEUS PUNCTATE* 40.12% NUCLEUS INTERMEDIATE* 5 0.30% 6 0.17% NUCLEUS DIFFUSE* 10.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.18% 7 0.20% ANTERIOR CAPSULE 2 0.12% CAPSULAR PUNCTATE 2 0.12% 8 0.23% CAPSULAR INTERMEDIATE 11 0.32%

ITALIAN GREYHOUND

1991 - 1999 2000-2007 CAPSULAR DIFFUSE 10.03% CAPSULAR SIGN. UNKNOWN 2 0.12% 25 0.72% POSTERIOR CAPSULE 1 0.06% GENERALIZED CATARACT* 4 0.24% 11 0.32% SUBLUXATION/LUXATION 15 0.89% 19 0.55% VITREOUS PERSISTENT HYALOID ARTERY 3 0.18% 19 0.55% PHPV/PTVL 1 0.06% 2 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 322 19.06% 685 19.80% DEGENERATION ANTERIOR CHAMBER 426 12.32% DEGENERATION SYNERESIS 151 4.37% FUNDUS RETINAL ATROPHY--GENERALIZED 25 1.48% 65 1.88% RETINAL ATROPHY--SUSPICIOUS 23 1.36% 58 1.68% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.24% 6 0.17% RETINAL DYSPLASIA GEOGRAPHIC 1 0.06% 3 0.09% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.03% RETINAL DETACHMENT 2 0.12% 4 0.12% OPTIC NERVE COLOBOMA 1 0.06% 1 0.03% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 12 0.71% OPTIC NERVE HYPOPLASIA 14 0.40% MICROPAPILLA 11 0.32% OTHER OTHER, INHERITED 22 1.30% 37 1.07% OTHER, NON -INHERITED 11 0.65% 107 3.09% NORMAL NORMAL 1221 72.29% 2228 64.41%

ITALIAN SPITZ

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Lens Luxation Not defined 1 NO

Description and Comments

A. Lens Luxation

References

1. Guandalini, A., et al.:L3- Primary Lens Luxation. ECVO Proceedings 1999.

JACK RUSSELL TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 5 Breeder option

B. Corneal dystrophy Not defined 7 Breeder option -epithelial/stromal

C. Persistent pupillary membranes -iris to iris Not defined 5,6 Breeder option -all other forms Not defined 6 NO

D. Lens luxation Not defined 1-4 NO

E. Cataract Not defined 1 NO

F. Vitreous Not defined 5 Breeder option Degeneration

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

D. Lens luxation

Partial (subluxation) or complete displacement of the lens from its normal anatomic site behind the pupil. Lens luxation not associated with trauma or inflammation is presumed to be inherited. Lens luxation may result in elevated intraocular pressure (glaucoma) causing vision impairment or blindness.

E. Cataract

F. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Lawson DD: Luxation of the crystalline lens in the dog. J Small Anim Pract 10:461, 1969.

3. Curtis R, Barnett KC: Primary lens luxation in the dog. J Small Anim Pract 21:657, 1980.

4. Curtis R, Barnett KC, Lewis SJ: Clinical and pathological observations concerning the aetiology of primary lens luxation in the dog. Vet Rec 112:238, 1983.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

JACK RUSSELL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF JACK RUSSELL TERRIER EXAMINED 2309 9568

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.04% 3 0.03% GLAUCOMA 2 0.09% 1 0.01% EYELIDS ENTROPION 2 0.09% 1 0.01% DISTICHIASIS 71 3.07% 223 2.33% ECTOPIC CILIA 20.02% EURY/MACRO BLEPHARON 10.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 9 0.39% 41 0.43% DYSTROPHY--ENDOTHELIAL 3 0.13% 4 0.04% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.04% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 4 0.17% 2 0.02% UVEA IRIS / CILIARY BODY CYSTS 1 0.04% 3 0.03% IRIS COLOBOMA 1 0.04% 2 0.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 153 6.63% 405 4.23% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 8 0.35% 28 0.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 9 0.39% 9 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.22% 5 0.05% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 131 5.67% 572 5.98% ANTERIOR CORTEX PUNCTATE* 9 0.39% 48 0.50% ANTERIOR CORTEX INTERMEDIATE* 31 1.34% 129 1.35% ANTERIOR CORTEX DIFFUSE* 1 0.04% 8 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11 0.48% 112 1.17% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.09% POSTERIOR CORTEX PUNCTATE* 10 0.43% 52 0.54% POSTERIOR CORTEX INTERMEDIATE* 48 2.08% 252 2.63% POSTERIOR CORTEX DIFFUSE* 3 0.13% 29 0.30% POST. CORTEX PUNCT. SIGN. UNKNOWN 5 0.22% 42 0.44% EQUATORIAL CORTEX PUNCTATE* 1 0.04% 14 0.15% EQUATORIAL CORTEX INTERMEDIATE* 12 0.52% 45 0.47% EQUATORIAL CORTEX DIFFUSE* 60.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.22% 30 0.31% ANTERIOR SUTURES PUNCTATE* 4 0.17% 8 0.08% ANTERIOR SUTURES INTERMEDIATE* 80.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 13 0.14% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.04% POSTERIOR SUTURES PUNCTATE* 6 0.26% 29 0.30% POSTERIOR SUTURES INTERMEDIATE* 27 1.17% 81 0.85% POSTERIOR SUTURES DIFFUSE* 60.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.48% 79 0.83% NUCLEUS (SIZE UNSPECIFIED)* 1 0.04% NUCLEUS PUNCTATE* 2 0.09% 10 0.10% NUCLEUS INTERMEDIATE* 8 0.35% 16 0.17%

JACK RUSSELL TERRIER

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 1 0.04% 1 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 0.17% 26 0.27% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.01% CAPSULAR PUNCTATE 2 0.09% 11 0.11% CAPSULAR INTERMEDIATE 20 0.21% CAPSULAR DIFFUSE 40.04% CAPSULAR SIGN. UNKNOWN 5 0.22% 41 0.43% GENERALIZED CATARACT* 5 0.22% 14 0.15% SUBLUXATION/LUXATION 16 0.69% 60 0.63% VITREOUS PERSISTENT HYALOID ARTERY 5 0.22% 12 0.13% PHPV/PTVL 20.02% DEGENERATION (NO FURTHER SPECIFICATION) 28 1.21% 118 1.23% DEGENERATION ANTERIOR CHAMBER 13 0.14% DEGENERATION SYNERESIS 23 0.24% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.09% 22 0.23% RETINAL ATROPHY--SUSPICIOUS 5 0.22% 50 0.52% RETINAL DYSPLASIA FOCAL/FOLDS 11 0.48% 36 0.38% RETINAL DYSPLASIA GEOGRAPHIC 3 0.13% 15 0.16% RETINAL DYSPLASIA GENERALIZED/DETACHED 40.04% STAPHYLOMA / COLOBOMA 20.02% RETINAL DETACHMENT 1 0.04% 4 0.04% RETINAL HEMORRHAGE 2 0.09% 2 0.02% OPTIC NERVE COLOBOMA 10.01% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.13% OPTIC NERVE HYPOPLASIA 50.05% MICROPAPILLA 1 0.04% 5 0.05% OTHER OTHER, INHERITED 29 1.26% 35 0.37% OTHER, NON -INHERITED 37 1.60% 559 5.84% NORMAL NORMAL 1832 79.34% 7867 82.22%

JAPANESE CHIN (JAPANESE SPANIEL)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 Breeder option

B. Distichiasis Not defined 2,3 Breeder option

C. Chronic superficial Not defined 4 NO keratitis/pannus

D. Exposure keratopathy Not defined 1 Breeder option syndrome

E. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - iris sheets Not defined 5 NO - all other forms Not defined 3 NO

F. Cataract Not defined 1 NO

G. Persistent Not defined 5 NO hyperplastic primary vitreous/Persistent hyperplastic tunica vasculosa lentis (PHPV/PHTVL)

H. Vitreous Not defined 3 Breeder option degeneration

I. Persistent hyaloid Not defined 1 Breeder option artery

Description and Comments

A. Entropion

B. Distichiasis

C. Chronic superficial keratitis/pannus

D. Exposure keratopathy syndrome

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

H. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

I. Persistent hyaloid artery (PHA)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Japanese Chin breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

5. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

JAPANESE CHIN

1991 - 1999 2000-2007 TOTAL NUMBER OF JAPANESE CHIN EXAMINED 129 446

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 14 10.85% 29 6.50% DISTICHIASIS 8 6.20% 24 5.38% EURY/MACRO BLEPHARON 1 0.78% 3 0.67% CORNEA DYSTROPHY--ENDOTHELIAL 1 0.78% 1 0.22% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 2.33% 6 1.35% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 7 5.43% 16 3.59% UVEA IRIS COLOBOMA 10.22% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.78% 49 10.99% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 51.12% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 71.57% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 61.35% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 20 15.50% 45 10.09% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.78% ANTERIOR CORTEX PUNCTATE* 5 3.88% 5 1.12% ANTERIOR CORTEX INTERMEDIATE* 8 6.20% 14 3.14% ANTERIOR CORTEX DIFFUSE* 10.22% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.78% 7 1.57% POSTERIOR CORTEX PUNCTATE* 2 1.55% 4 0.90% POSTERIOR CORTEX INTERMEDIATE* 3 2.33% 13 2.91% POSTERIOR CORTEX DIFFUSE* 20.45% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.78% 4 0.90% EQUATORIAL CORTEX PUNCTATE* 1 0.78% 3 0.67% EQUATORIAL CORTEX INTERMEDIATE* 3 2.33% 13 2.91% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.22% ANTERIOR SUTURES PUNCTATE* 20.45% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 40.90% POSTERIOR SUTURES PUNCTATE* 30.67% POSTERIOR SUTURES INTERMEDIATE* 1 0.78% 4 0.90% POSTERIOR SUTURES DIFFUSE* 10.22% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30.67% NUCLEUS PUNCTATE* 10.22% NUCLEUS INTERMEDIATE* 1 0.78% 2 0.45% NUCLEUS PUNCTATE SIGN. UNKNOWN 30.67% CAPSULAR PUNCTATE 20.45% CAPSULAR INTERMEDIATE 71.57% CAPSULAR SIGN. UNKNOWN 51.12% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 30.67% SUBLUXATION/LUXATION 1 0.78% 5 1.12% VITREOUS PERSISTENT HYALOID ARTERY 3 2.33% 12 2.69% PHPV/PTVL 10 2.24% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.55% 9 2.02%

JAPANESE CHIN

1991 - 1999 2000-2007 DEGENERATION ANTERIOR CHAMBER 40.90% DEGENERATION SYNERESIS 30.67% FUNDUS RETINAL ATROPHY--SUSPICIOUS 5 3.88% 4 0.90% RETINAL DYSPLASIA FOCAL/FOLDS 10.22% RETINAL DYSPLASIA GEOGRAPHIC 20.45% STAPHYLOMA / COLOBOMA 10.22% RETINAL DETACHMENT 1 0.78% OPTIC NERVE COLOBOMA 20.45% OTHER OTHER, INHERITED 5 3.88% 6 1.35% OTHER, NON -INHERITED 33 7.40% NORMAL NORMAL 70 54.26% 291 65.25%

KARELIAN BEAR DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Autosomal * - generalized recessive

* A mutation-based DNA test is available.

Description and Comments

E Retinal atrophy- generalized (PRA)

KARELIAN BEAR DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF KARELIAN BEAR DOG EXAMINED 41 26

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 4.88% 2 7.69% DYSTROPHY--ENDOTHELIAL 13.85% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 19.51% 1 3.85% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 4.88% 1 3.85% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 4.88% 1 3.85% ANTERIOR CORTEX INTERMEDIATE* 2 4.88% 1 3.85% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 2.44% CAPSULAR PUNCTATE 2 4.88% CAPSULAR INTERMEDIATE 13.85% FUNDUS RETINAL ATROPHY--SUSPICIOUS 13.85% RETINAL DYSPLASIA FOCAL/FOLDS 1 2.44% 2 7.69% OTHER OTHER, NON -INHERITED 13.85% NORMAL NORMAL 29 70.73% 20 76.92%

KEESHOND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 2 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 3 Breeder option

D. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

Eyelashes abnormally located in the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Keeshond breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

KEESHOND

1991 - 1999 2000-2007 TOTAL NUMBER OF KEESHOND EXAMINED 918 1172

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 90.77% DISTICHIASIS 39 4.25% 69 5.89% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.11% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.44% 1 0.09% DYSTROPHY--ENDOTHELIAL 10.09% UVEA IRIS / CILIARY BODY CYSTS 1 0.11% 1 0.09% IRIS COLOBOMA 10.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.44% 9 0.77% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.11% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 50 5.45% 63 5.38% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.11% ANTERIOR CORTEX PUNCTATE* 5 0.54% 4 0.34% ANTERIOR CORTEX INTERMEDIATE* 2 0.22% 2 0.17% ANTERIOR CORTEX DIFFUSE* 10.09% ANTERIOR CORTEX SUSPICIOUS 1 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 8 0.87% 9 0.77% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.33% POSTERIOR CORTEX PUNCTATE* 3 0.33% 8 0.68% POSTERIOR CORTEX INTERMEDIATE* 13 1.42% 10 0.85% POSTERIOR CORTEX DIFFUSE* 3 0.33% 1 0.09% POSTERIOR CORTEX SUSPICIOUS 1 0.11% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.22% 7 0.60% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.11% EQUATORIAL CORTEX PUNCTATE* 2 0.22% 5 0.43% EQUATORIAL CORTEX INTERMEDIATE* 1 0.11% 5 0.43% EQUATORIAL CORTEX SUSPICIOUS 1 0.11% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.44% 5 0.43% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.11% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 10 1.09% POSTERIOR SUTURES PUNCTATE* 4 0.44% 21 1.79% POSTERIOR SUTURES INTERMEDIATE* 7 0.76% 8 0.68% POSTERIOR SUTURES SUSPICIOUS 8 0.87% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 29 3.16% 53 4.52% NUCLEUS (SIZE UNSPECIFIED)* 1 0.11% NUCLEUS PUNCTATE* 10.09% NUCLEUS INTERMEDIATE* 1 0.11% 6 0.51% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.22% 4 0.34% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.09% CAPSULAR PUNCTATE 10.09% CAPSULAR INTERMEDIATE 10.09%

KEESHOND

1991 - 1999 2000-2007 CAPSULAR SIGN. UNKNOWN 1 0.11% 10 0.85% POSTERIOR CAPSULE 2 0.22% GENERALIZED CATARACT* 2 0.22% SUBLUXATION/LUXATION 1 0.11% VITREOUS PERSISTENT HYALOID ARTERY 1 0.11% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.22% 1 0.09% DEGENERATION SYNERESIS 10.09% FUNDUS RETINAL ATROPHY--GENERALIZED 30.26% RETINAL ATROPHY--SUSPICIOUS 1 0.11% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.44% 1 0.09% RETINAL DYSPLASIA GEOGRAPHIC 20.17% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.11% STAPHYLOMA / COLOBOMA 10.09% RETINAL DETACHMENT 2 0.22% RETINAL HEMORRHAGE 1 0.11% OPTIC NERVE COLOBOMA 1 0.11% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 0.54% OPTIC NERVE HYPOPLASIA 50.43% MICROPAPILLA 50.43% OTHER OTHER, INHERITED 6 0.65% 1 0.09% OTHER, NON -INHERITED 6 0.65% 35 2.99% NORMAL NORMAL 753 82.03% 969 82.68%

KERRY BLUE TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 3 Breeder option

B. Corneal dystrophy Not defined 3 Breeder option - epithelial/stromal

C. Persistent pupillary Not defined 3 Breeder option membranes - iris to iris

D. Cataract Not defined 1 NO

E. Vitreous Not defined 2 Breeder option degeneration

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Kerry Blue Terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

KERRY BLUE TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF KERRY BLUE TERRIER EXAMINED 243 310

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 0.41% 3 0.97% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 20.65% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.32% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 0.82% 4 1.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.82% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.32% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 5 2.06% 13 4.19% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.82% ANTERIOR CORTEX PUNCTATE* 1 0.41% 9 2.90% ANTERIOR CORTEX DIFFUSE* 10.32% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 1.23% 11 3.55% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.82% POSTERIOR CORTEX PUNCTATE* 20.65% POSTERIOR CORTEX INTERMEDIATE* 41.29% POSTERIOR CORTEX DIFFUSE* 10.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.41% 1 0.32% EQUATORIAL CORTEX INTERMEDIATE* 1 0.41% 1 0.32% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.41% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.41% 5 1.61% NUCLEUS DIFFUSE* 10.32% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.32% ANTERIOR CAPSULE 1 0.41% GENERALIZED CATARACT* 1 0.41% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 3 1.23% 3 0.97% DEGENERATION ANTERIOR CHAMBER 20.65% FUNDUS RETINAL ATROPHY--GENERALIZED 20.65% OTHER OTHER, INHERITED 2 0.82% OTHER, NON -INHERITED 1 0.41% 17 5.48% NORMAL NORMAL 226 93.00% 268 86.45%

KOMONDOR

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 2 Breeder option

B. Persistent pupillary Not defined 2 Breeder option membranes - iris to iris

C. Cataract Not defined 1 NO

Description and Comments

A. Entropion

B. Persistent pupillary membranes (PPM)

C. Cataract

Appears to be relatively young age for onset in the Komondor (<4yr) and mainly anterior cortical.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Komondor breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

KOMONDOR

1991 - 1999 2000-2007 TOTAL NUMBER OF KOMONDOR EXAMINED 91 130

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 10.77% ECTROPION 1 1.10% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 1.10% 2 1.54% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 14.29% 7 5.38% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 2.20% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 1.10% 4 3.08% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.10% POSTERIOR CORTEX INTERMEDIATE* 10.77% POSTERIOR CORTEX DIFFUSE* 1 1.10% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.10% EQUATORIAL CORTEX PUNCTATE* 1 1.10% 1 0.77% EQUATORIAL CORTEX INTERMEDIATE* 43.08% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 4.40% ANTERIOR SUTURES INTERMEDIATE* 10.77% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 6 6.59% POSTERIOR SUTURES INTERMEDIATE* 10.77% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 3.30% NUCLEUS INTERMEDIATE* 1 1.10% 1 0.77% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 2.20% 7 5.38% CAPSULAR PUNCTATE 21.54% CAPSULAR SIGN. UNKNOWN 1 1.10% 1 0.77% POSTERIOR CAPSULE SIGN. UNKNOWN 1 1.10% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 10.77% OTHER OTHER, INHERITED 1 1.10% OTHER, NON -INHERITED 43.08% NORMAL NORMAL 69 75.82% 112 86.15%

KUVASZ

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 3 NO - endothelial

C. Persistent pupillary membranes - iris to iris Not defined 1,2 Breeder option - all other forms Not defined 2 NO

D. Cataract Not defined 1 NO

E. Vitreous Not defined 3 Breeder option degeneration

F. Retinal atrophy Autosomal 1,4 NO - generalized (prcd) recessive

Description and Comments

A. Distichiasis

B. Corneal dystrophy- endothelial

C. Persistent pupillary membranes (PPM)

D. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. In the Kuvasz cataracts reported are predominantly posterior cortical, punctate.

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Retinal atrophy, generalized (prcd)

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Kuvasz breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

4. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

KUVASZ

1991 - 1999 2000-2007 TOTAL NUMBER OF KUVASZ EXAMINED 310 175

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.32% EYELIDS ECTROPION 2 0.65% DISTICHIASIS 12 3.87% 8 4.57% ECTOPIC CILIA 1 0.32% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.32% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.32% 4 2.29% DYSTROPHY--ENDOTHELIAL 10.57% UVEA IRIS COLOBOMA 2 0.65% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 16 5.16% 7 4.00% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.97% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.65% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 9 2.90% 5 2.86% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.32% ANTERIOR CORTEX PUNCTATE* 10.57% ANTERIOR CORTEX DIFFUSE* 10.57% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.57% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.32% POSTERIOR CORTEX PUNCTATE* 1 0.32% POSTERIOR CORTEX INTERMEDIATE* 10.57% POST. CORTEX PUNCT. SIGN. UNKNOWN 3 0.97% 1 0.57% EQUATORIAL CORTEX PUNCTATE* 1 0.32% EQUATORIAL CORTEX INTERMEDIATE* 1 0.32% POSTERIOR SUTURES PUNCTATE* 1 0.32% NUCLEUS INTERMEDIATE* 2 0.65% NUCLEUS DIFFUSE* 1 0.32% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.65% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.32% CAPSULAR SIGN. UNKNOWN 31.71% GENERALIZED CATARACT* 1 0.32% 2 1.14% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 10.57% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.65% RETINAL ATROPHY--SUSPICIOUS 21.14% OTHER OTHER, INHERITED 1 0.32% 1 0.57% OTHER, NON -INHERITED 1 0.32% 10 5.71% NORMAL NORMAL 258 83.23% 146 83.43%

LABRADOR RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectropion Not defined 1 Breeder option

C. Entropion Not defined 1-3 Breeder option

D. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

E. Iris cysts Not defined 32 Breeder option

F. Persistent pupillary membranes - iris to iris Not defined 1,32 Breeder option - iris to cornea Not defined 33 NO - iris sheets Not defined 32 NO - all other forms Not defined 32 NO

G. Iris melanoma Presumed 4 NO autosomal recessive

H. Cataract Presumed 1-7 NO dominant with incomplete penetrance , Autosomal 31 NO Recessive

I. Persistent hyaloid Not defined 1 Breeder option artery

J. Persistent hyperplastic Not defined 1 NO primary vitreous/ persistent hyperplastic tunica vasculosa lentis (PHPV/PHTVL)

K. Retinal atrophy Autosomal 1,8-15,35 NO - generalized (prcd) recessive

L. Central progressive Not defined 16,17 NO retinal atrophy

M. Retinal dysplasia Presumed 1,18-29 NO - folds autosomal (Breeder option Recessive with “Normal” DNA test)

N. Retinal dysplasia Presumed 1,18-29 NO - geographic autosomal detached (without recessive skeletal defects)

O. Retinal dysplasia Presumed 1,18-28, NO - folds/geographic/ incomplete detached (with dominant skeletal defects)

P. Vitreous Not defined 30 Breeder option degeneration

Q. Limbal melanoma Not defined 34 NO

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Ectropion

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Selection should be directed against entropion and toward a head conformation that reduces or eliminates the likelihood of the defect.

D. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

E. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

F. Persistent pupillary membranes (PPM)

In the Labrador retriever, this is a potentially serious problem as many of the ppm’s identified on routine screening examinations bridge from the iris to the cornea and/or from iris sheets bridging the pupils. These forms may cause vision impairment.

G. Iris melanoma

A locally invasive cancer of melanocyte (pigment) cell origin within the iris. Occurs with a higher than normal incidence in the Labrador retriever. Left untreated it will result in secondary glaucoma.

H. Cataract

The most frequently reported cataracts in the breed are bilateral or unilateral, focal, posterior polar (posterior cortical)/subcapsular cataracts usually present between 1-3 years of age. These are generally stationary or very slowly progressive and generally do not interfere with vision. It has been suggested that these cataracts are inherited as dominant with incomplete penetrance, but definitive breeding studies are still required to verify this hypothesis.

A second type of cataract is a progressive cortical cataract which may involve the entire lens. It is not clear whether this is a distinct entity, or an aberrant form of the posterior polar cataract.

I. Persistent hyaloid artery (PHA)

J. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

K. Retinal atrophy-generalized (prcd)

In the Labrador retriever, early fundus abnormalities usually appear after 4 years of age. The electroretinogram (ERG) shows marked functional abnormalities indicative of a progressive rod-cone degeneration. The age for early diagnosis by ERG is after 18 months of age. Studies have shown that PRA in the Labrador retriever is inherited as autosomal recessive.

The prcd mutation has been identified. The mutation is allelic to that present in miniature poodles, Portuguese water dog, Labrador retriever, English and American cocker spaniels and others. The locus is termed the progressive rod-cone degeneration (prcd) gene. A mutation test is now available for early diagnosis. Contact: For testing: Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

L. Central progressive retinal atrophy (CPRA)

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness.

In the Labrador Retriever, the presence of retinal folds may be seen in the heterozygous state described in “N” below thus the recommendation against breeding.

For DNA testing contact Optigen®: RD/OSD test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

The breeding advice for Labrador Retrievers and Samoyeds diagnosed with "retinal dysplasia - folds" will be changed from "No" to "Breeder option" if the owner of the dog provides the CERF office with results of the DNA test for the affected dog, showing that it is not a carrier of the oculoskeletal dysplasia (OSD) mutation.

M. Retinal dysplasia without skeletal defects

Abnormal development of the retina present at birth and recognized to have three forms:

1) Retinal dysplasia - folds: linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. (see N.) 2) Retinal dysplasia - geographic: any irregularly shaped area of abnormal retinal development, representing changes not accountable by simple folding. 3) Retinal dysplasia - detachment: either of the above described forms of retinal dysplasia associated with separation (detachment) of the retina.

The two latter forms are associated with vision impairment or blindness. Retinal dysplasia is known to be inherited in many breeds. The genetic relationship between the 3 forms of the disease is not known for all breeds.

In Europe, this condition has been documented as an autosomal recessive condition and results in early retinal detachment and blindness. Lens and corneal opacities can also be present, but skeletal abnormalities (see below) are not present. The condition of generalized retinal dysplasia with retinal detachment but without skeletal abnormalities has been reported primarily in Europe, and is rarely if ever seen in the United States.

In the United States, the milder forms of retinal dysplasia (folds/geographic) are seen in Labradors. These may represent the heterozygous form of the condition in which the homozygote also displays skeletal malformations (see “N” below) or it may represent a genetically distinct entity with an undetermined mode of inheritance. It is not possible clinically to make this distinction. Thus, Labradors with any form of retinal dysplasia should not be used for breeding.

N. Retinal dysplasia - folds/geographic/detachment (with skeletal defects)

An inherited defect of the Labrador retriever which can affect both the eye and the forelimbs. The gene has recessive effects on the skeleton and incompletely dominant effects on the eye. Dogs homozygous recessive for the gene defect have retinal dysplasia (detachment), cataracts and corneal pigmentation, associated with abnormalities of the appendicular skeleton (a form of short-limbed dwarfism). The ocular abnormalities result in blindness in most dogs. Heterozygous dogs have a bilateral/unilateral congenital retinal defect resulting in ophthalmoscopically visible retinal dysplasia (folds and/or geographic lesions) present in the central tapetal region near the major retinal vessels. Vision can be normal to impaired. The condition in the heterozygous dog is stationary although, in rare cases, progressive retinal detachments have developed. The term "incompletely dominant" in regard to the ocular lesions refers to the difference in phenotype between the homozygous and heterozygous state. This condition has been found primarily in field trial lines.

O. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

P. Limbal melanoma

Most limbal melanomas are realy epibulbar melanocytomas, but there is a possibility of an extension of an intraocular melanoma extending outward and presenting as a limbal melanoma. An epibulbar melanocytoma originates from the superficial pigment lining the limbus and the lesion may eventually extend into the eye. Metastasis has not been documented and the mass is characterized by large epithelioid cells. The lesion presents as a subconjunctival smooth mass most commonly in the dorsolateral limbal region and extends later into the cornea and posterior on the sclera. Breed predisposition have been noted in the German shepherd, Labrador and Golden Retriever.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Hodgman SFJ: Abnormalities and defects in pedigree dogs: I. An investigation into the existence of abnormalities in pedigree dogs in the British Isles. J Small Anim Pract 4:447, 1963

3. Johnston DE, et al: The incidence in purebred dogs in Australia of abnormalities that may be inherited. Aust Vet J 46:465, 1970.

4. Cook CS: Inherited iris melanoma in Labrador retriever dogs. Proc Amer Coll Vet Ophthalmologists 27:106, 1997.

5. Curtis R, Barnett KC: A survey of cataracts in Golden and Labrador retrievers. J Small Anim Pract 30:277, 1989.

6. Barnett KC: Hereditary cataract in the dog. J Small Anim Pract 19:109, 1978.

7. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

8. Barnett KC: Two forms of hereditary and progressive retinal atrophy in the dog. I. The miniature poodle. II. The Labrador retriever. J Am Anim Hosp Assoc 1:234, 1965.

9. Goebel HH, Koppang N: Ultrastructural studies on the progressive retinal atrophy of the Labrador dog. J Neuropathol Exp Neurol 43:310, 1984.

10. Aguirre GD, Acland GM: Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res 46:663, 1988.

11. Aguirre GD, Acland GM: Progressive retinal atrophy in the Labrador retriever is a progressive rod-cone degeneration (prcd). Trans Am Coll Vet Ophthalmol 20:150, 1989.

12. Kommonen B, Harhunen U: A late receptor dystrophy in the Labrador retriever. Vision Res 30:207, 1990

13. Aguirre GD, Acland GM: Inherited retinal degeneration in the Labrador retriever dog. A new animal model of RP? Invest Ophthalmol Vis Sci (Supp) 32(4), 1991.

14. Kommonen B, Penn JS, Kylma T, et al: Early ultrastructural changes in photoreceptor degeneration in Labrador retrievers. Proc European Society of Veterinary Ophthalmology, Uppsala, p.26, 1993.

15. Impaired retinal function in young Labrador retrievers heterozygous for late-onset rod-cone degeneration. Invest Ophthalmol Vis Sci (Suppl) 36:4263, 1995.

16. Aguirre G, Acland G: Use and misuse of electroretinography in the diagnosis of inherited retinal diseases of dogs. Proceedings American College of Veterinary Ophthalmologists 27:37, 1997

17. Barnett KC: Central progressive retinal atrophy in the Labrador retriever. Vet Ann 17:142, 1969.

18. Hereditary eye abnormalities in the dog #2. Central progressive retinal atrophy. The Animal Health Trust, Small Animals Centre. November, 1977.

19. Barnett KC et al: Hereditary retinal dysplasia in the Labrador retriever in England and Sweden. J Small Anim Pract 10:755, 1970.

20. Kock E: Retinal dysplasia. Thesis, Stockholm, 1974.

21. Carrig CB et al: Retinal dysplasia associated with skeletal abnormalities in Labrador retrievers. J Am Vet Med Assoc 170:49, 1977.

22. Tvedten HW: Ocular and osseous dysplasia in Labrador retriever dogs: Two separate but concurrent autosomal recessive disorders. Proc Am Coll Vet Pathol 31:80, 1980.

23. Nelson D, MacMillan A: Multifocal retinal dysplasia in the field trial Labrador retriever. J Am Anim Hosp Assoc 19:388, 1983.

24. Carrig CB et al: Inheritance of associated ocular and skeletal dysplasia in Labrador retrievers. J Am Vet Med Assoc 193:1269, 1988.

25. Blair NP, Dodge JT, Schmidt GM: Rhegmatogenous retinal detachment in Labrador retrievers: I. Development of retinal tears and detachment. Arch Ophthalmol 103:842, 1985.

26. Blair NP, Dodge JT, Schmidt GM: Rhegmatogenous retinal detachment in Labrador retrievers: II. Proliferative vitreoretinopathy. Arch Ophthalmol 103:848, 1985.

27. Carrig CB, Schmidt GM, Tvedten HML: Growth of the radius and ulna in Labrador retriever dogs with ocular and skeletal dysplasia. Vet Radiol 31:165, 1990.

28. Gionfriddo JR, Betts DM, Niyo Y: Retinal and skeletal dysplasia in a field trial Labrador retriever puppy. Canine Pract 17:25, 1992.

29. Acland GM, Aguirre GD: Oculoskeletal dysplasia in the Samoyed and Labrador retriever dogs: 2 nonallelic disorders akin to Stickler-like syndrome affecting humans. Presented at the 2nd International DOGMAP Meeting, Cambridge, Great Britain, 1995.

30. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

31. Aquirre, G., et al: A Re-Examination of the Mode of Inheritence of Possterior Cortical Cataracts in Labrador Retrievers and Golden Retrievers. ACVO Proceedings 2004.

32. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

33. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

34. Donaldson D, Sansom J et al: Canine limbal melanoma: 30 cases (1992-2004). Part 1.Signalment, clinical and histological features and pedigree analysis. Vet Ophthal 9:119, 2006.

35. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

LABRADOR RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF LABRADOR RETRIEVER EXAMINED 75917 87382

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 36 0.05% 16 0.02% DRY EYE 3 0.00% GLAUCOMA 16 0.02% 4 0.00% EYELIDS ENTROPION 361 0.48% 363 0.42% ECTROPION 190 0.25% 195 0.22% DISTICHIASIS 877 1.16% 806 0.92% ECTOPIC CILIA 11 0.01% 5 0.01% EURY/MACRO BLEPHARON 28 0.04% 36 0.04% THIRD EYELID CARTILAGE ANOMALY/EVERSION 4 0.01% 1 0.00% GLAND PROLAPSE 11 0.01% 8 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 5 0.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 650 0.86% 810 0.93% DYSTROPHY--ENDOTHELIAL 45 0.06% 26 0.03% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 6 0.01% 2 0.00% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 3 0.00% 6 0.01% UVEA IRIS / CILIARY BODY CYSTS 68 0.09% 153 0.18% IRIS COLOBOMA 2 0.00% 7 0.01% PIGMENTARY UVEITIS 10.00% UVEAL MELANOMA 30.00% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1395 1.84% 2868 3.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 53 0.07% 68 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 57 0.08% 71 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 65 0.09% 108 0.12% ENDOTHELIAL PIGMENT/NO PPM 50.01% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2551 3.36% 2217 2.54% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 136 0.18% ANTERIOR CORTEX PUNCTATE* 294 0.39% 285 0.33% ANTERIOR CORTEX INTERMEDIATE* 220 0.29% 304 0.35% ANTERIOR CORTEX DIFFUSE* 20 0.03% 20 0.02% ANTERIOR CORTEX SUSPICIOUS 47 0.06% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1321 1.74% 2029 2.32% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 30.00% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 236 0.31% POSTERIOR CORTEX PUNCTATE* 485 0.64% 414 0.47% POSTERIOR CORTEX INTERMEDIATE* 636 0.84% 768 0.88% POSTERIOR CORTEX DIFFUSE* 43 0.06% 35 0.04% POSTERIOR CORTEX SUSPICIOUS 42 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 278 0.37% 309 0.35% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 37 0.05%

LABRADOR RETRIEVER

1991 - 1999 2000-2007 EQUATORIAL CORTEX PUNCTATE* 57 0.08% 62 0.07% EQUATORIAL CORTEX INTERMEDIATE* 173 0.23% 206 0.24% EQUATORIAL CORTEX DIFFUSE* 6 0.01% 11 0.01% EQUATORIAL CORTEX SUSPICIOUS 5 0.01% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 143 0.19% 241 0.28% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 90.01% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 13 0.02% ANTERIOR SUTURES PUNCTATE* 34 0.04% 38 0.04% ANTERIOR SUTURES INTERMEDIATE* 21 0.03% 28 0.03% ANTERIOR SUTURES DIFFUSE* 1 0.00% 2 0.00% ANTERIOR SUTURES SUSPICIOUS 4 0.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 132 0.17% 227 0.26% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 73 0.10% POSTERIOR SUTURES PUNCTATE* 254 0.33% 208 0.24% POSTERIOR SUTURES INTERMEDIATE* 192 0.25% 171 0.20% POSTERIOR SUTURES DIFFUSE* 9 0.01% 9 0.01% POSTERIOR SUTURES SUSPICIOUS 23 0.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 332 0.44% 688 0.79% POSTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 40.00% NUCLEUS (SIZE UNSPECIFIED)* 24 0.03% NUCLEUS PUNCTATE* 41 0.05% 59 0.07% NUCLEUS INTERMEDIATE* 96 0.13% 130 0.15% NUCLEUS DIFFUSE* 10 0.01% 14 0.02% NUCLEUS SUSPICIOUS 12 0.02% NUCLEUS PUNCTATE SIGN. UNKNOWN 163 0.21% 226 0.26% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.00% ANTERIOR CAPSULE 26 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 46 0.06% ANTERIOR CAPSULE SUSPICIOUS 10 0.01% CAPSULAR PUNCTATE 12 0.02% 123 0.14% CAPSULAR INTERMEDIATE 12 0.02% 129 0.15% CAPSULAR DIFFUSE 70.01% CAPSULAR SIGN. UNKNOWN 91 0.12% 601 0.69% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 20.00% POSTERIOR CAPSULE 136 0.18% POSTERIOR CAPSULE SIGN. UNKNOWN 61 0.08% POSTERIOR CAPSULE SUSPICIOUS 36 0.05% GENERALIZED CATARACT* 57 0.08% 31 0.04% GENERALIZED SUSPICIOUS 1 0.00% GENERALIZED SIGNIFICANTS UNKNOWN 2 0.00% 1 0.00% SUBLUXATION/LUXATION 21 0.03% 21 0.02% VITREOUS PERSISTENT HYALOID ARTERY 242 0.32% 249 0.28% PHPV/PTVL 42 0.06% 46 0.05% DEGENERATION (NO FURTHER SPECIFICATION) 296 0.39% 219 0.25% DEGENERATION ANTERIOR CHAMBER 13 0.01% DEGENERATION SYNERESIS 61 0.07% FUNDUS RETINAL ATROPHY--GENERALIZED 216 0.28% 153 0.18%

LABRADOR RETRIEVER

1991 - 1999 2000-2007 RETINAL ATROPHY--CENTRAL 4 0.01% RETINAL ATROPHY--SUSPICIOUS 270 0.36% 204 0.23% RETINAL DYSPLASIA FOCAL/FOLDS 2033 2.68% 1972 2.26% RETINAL DYSPLASIA GEOGRAPHIC 814 1.07% 759 0.87% RETINAL DYSPLASIA GENERALIZED/DETACHED 85 0.11% 77 0.09% CHOROIDAL HYPOPLASIA 4 0.01% 9 0.01% STAPHYLOMA / COLOBOMA 6 0.01% 4 0.00% RETINAL DETACHMENT 47 0.06% 19 0.02% RETINAL HEMORRHAGE 18 0.02% 15 0.02% OPTIC NERVE COLOBOMA 25 0.03% 12 0.01% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 53 0.07% 1 0.00% OPTIC NERVE HYPOPLASIA 23 0.03% MICROPAPILLA 7 0.01% 40 0.05% OTHER OTHER, INHERITED 626 0.82% 256 0.29% OTHER, NON -INHERITED 311 0.41% 3469 3.97% NORMAL NORMAL 64261 84.65% 75753 86.69%

LAKELAND TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes -iris to iris Not defined 1,2 Breeder option -all other forms Not defined 2 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Lakeland terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

LAKELAND TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF LAKELAND TERRIER EXAMINED 85 71

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 4 4.71% CORNEA DYSTROPHY--ENDOTHELIAL 2 2.35% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 15 17.65% 8 11.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 11.41% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 4.71% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 1.18% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 2.35% 1 1.41% ANTERIOR CORTEX INTERMEDIATE* 2 2.35% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11.41% POSTERIOR CORTEX INTERMEDIATE* 1 1.18% 1 1.41% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.18% ANTERIOR CAPSULE SIGN. UNKNOWN 1 1.18% GENERALIZED CATARACT* 11.41% OTHER OTHER, NON -INHERITED 11.41% NORMAL NORMAL 61 71.76% 62 87.32%

LANCASHIRE HEELER (Ormskirk Terrier)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 2 Breeder option membrane - iris to iris

B. Lens luxation Not defined 4 NO

C. “Collie eye anomaly” Not defined 1,3 NO Choroidal hypoplasia staphyloma/coloboma retinal detachment retinal hemorrhage optic nerve coloboma

Description and Comments

A. Persistent pupillary membrane (PPM)

B. Lens luxation

C. “Collie eye anomaly” Choroidal hypoplasia staphyloma/coloboma retinal detachment retinal hemorrhage optic nerve coloboma

References

1. Bedford, P: Collie Eye Anomaly in the Lancashire Heeler. Veterinary Record 1998 Volume 143: 354-356.

2. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

3. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

4. Sargan DR, Withers D, Pettitt L, et al: Mapping the mutation causing lens luxation in several terrier breeds. J Heredity 98(5):534-358, 2007.

LANCASHIRE HEELER

1991 - 1999 2000-2007 TOTAL NUMBER OF LANCASHIRE HEELER EXAMINED 72

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 11.39% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 37 51.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 22.78% VITREOUS PERSISTENT HYALOID ARTERY 22.78% DEGENERATION (NO FURTHER SPECIFICATION) 11.39% DEGENERATION ANTERIOR CHAMBER 22.78% DEGENERATION SYNERESIS 11.39% FUNDUS RETINAL ATROPHY--GENERALIZED 11.39% RETINAL DYSPLASIA FOCAL/FOLDS 11.39% NORMAL NORMAL 38 52.78%

LAPPONIAN HERDER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Autosomal 1 NO - generalized (prcd) recessive

Description and Comments

A. Retinal atrophy-generalized (PRA)

References

LAPPONIAN HERDER

1991 - 1999 2000-2007 TOTAL NUMBER OF LAPPONIAN HERDER EXAMINED 13

Diagnosic Name Number Percent Number Percent NORMAL NORMAL 1 100.00% 3 100.00%

LEONBERGER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 2,3 Breeder option

B. Ectropion Not defined 3 Breeder option

C. Entropion Not defined 2,3,4 Breeder option

D. Eury/Macroblepharon Not defined 2,4 Breeder option

E. Everted cartilage Not defined 5 Breeder option of the third eyelid

F. Ciliary body cysts Not defined 6 Breeder option

G. Persistent pupillary membranes - iris to iris Not defined 1,3,4 Breeder option - all other forms Not defined 3 NO

H. Cataract Not defined 1,4 NO

Description and Comments

A. Distichiasis

B. Ectropion

C. Entropion

D. Eury/Macroblepharon

E. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

F. Ciliary body cysts

Pigmented cysts arise from pigmented epithelial cells of the ciliary body.

G. Persistent pupillary membranes (PPM)

H. Cataract

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3 ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

4. Heinrich CL, Lakhani KH et al: Cataract in the UK Leonberger population. Vet Ophthalmol 9:350-356, 2006.

5. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

6. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

LEONBERGER

1991 - 1999 2000-2007 TOTAL NUMBER OF LEONBERGER EXAMINED 285 671

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 7 2.46% 25 3.73% ECTROPION 2 0.70% 15 2.24% DISTICHIASIS 5 1.75% 18 2.68% EURY/MACRO BLEPHARON 5 1.75% 19 2.83% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.35% 5 0.75% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 20.30% UVEA IRIS / CILIARY BODY CYSTS 1 0.35% 5 0.75% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 50 17.54% 118 17.59% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.15% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.15% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 30 10.53% 43 6.41% ANTERIOR CORTEX PUNCTATE* 4 1.40% 10 1.49% ANTERIOR CORTEX INTERMEDIATE* 1 0.35% 5 0.75% ANT. CORTEX PUNCT. SIGN. UNKNOWN 9 3.16% 31 4.62% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.35% POSTERIOR CORTEX PUNCTATE* 4 1.40% 6 0.89% POSTERIOR CORTEX INTERMEDIATE* 5 1.75% 13 1.94% POST. CORTEX PUNCT. SIGN. UNKNOWN 3 1.05% 4 0.60% EQUATORIAL CORTEX PUNCTATE* 1 0.35% 1 0.15% EQUATORIAL CORTEX SUSPICIOUS 1 0.35% ANTERIOR SUTURES PUNCTATE* 2 0.70% ANTERIOR SUTURES INTERMEDIATE* 2 0.70% 3 0.45% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.35% POSTERIOR SUTURES PUNCTATE* 1 0.35% 5 0.75% POSTERIOR SUTURES INTERMEDIATE* 5 1.75% 1 0.15% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.15% NUCLEUS (SIZE UNSPECIFIED)* 1 0.35% NUCLEUS PUNCTATE* 1 0.35% 1 0.15% NUCLEUS INTERMEDIATE* 7 2.46% 7 1.04% NUCLEUS SUSPICIOUS 2 0.70% NUCLEUS PUNCTATE SIGN. UNKNOWN 4 1.40% 11 1.64% CAPSULAR PUNCTATE 30.45% CAPSULAR SIGN. UNKNOWN 13 1.94% GENERALIZED CATARACT* 30.45% SUBLUXATION/LUXATION 2 0.70% VITREOUS PERSISTENT HYALOID ARTERY 1 0.35% 1 0.15% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.35% 1 0.15% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.35% 2 0.30%

LEONBERGER

1991 - 1999 2000-2007 RETINAL ATROPHY--SUSPICIOUS 10.15% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.35% 4 0.60% RETINAL DYSPLASIA GEOGRAPHIC 10.15% OPTIC NERVE COLOBOMA 10.15% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.35% MICROPAPILLA 10.15% OTHER OTHER, INHERITED 3 1.05% 4 0.60% OTHER, NON -INHERITED 5 1.75% 38 5.66% NORMAL NORMAL 171 60.00% 456 67.96%

LHASA APSO

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectopic cilia Not defined 1 Breeder option

C. Prolapsed gland Not defined 1,2 Breeder option of third eyelid

D. Imperforate Not defined 1 Breeder option lacrimal punctum

E. Keratoconjunctivitis Not defined 1 NO sicca (dry eye)

F. Exposure keratopathy Not defined 1 Breeder option syndrome/ macroblepharon

G. Persistent pupillary membranes -iris to iris Not defined 1,4 Breeder option -all other forms Not defined 4 NO

H. Cataract Not defined 1,3 NO

Description and Comments

A. Distichiasis

B. Ectopic cilia

Aberrant hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs. They may cause discomfort and corneal disease.

C. Prolapsed gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated. Commonly referred to as "cherry eye".

D. Imperforate lacrimal punctum

E. Keratoconjunctivitis sicca (dry eye)

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

F. Exposure keratopathy syndrome/macroblepharon

G. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally in the neonatal period. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

H. Cataract

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Morgan RV, Duddy JM, McClurg K: Prolapse of the third eyelid in the dog: A retrospective study of 89 cases (1980-1990). J Am Anim Hosp Assoc 29:56, 1993.

3. Gelatt KN, MacKay EO: Prevalence of primary breed-related cataracts in the dog in North America. Vet Ophth 8(2): 101, 2005.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

LHASA APSO

1991 - 1999 2000-2007 TOTAL NUMBER OF LHASA APSO EXAMINED 447 266

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.22% DRY EYE 2 0.45% 1 0.38% EYELIDS ENTROPION 6 1.34% 4 1.50% DISTICHIASIS 19 4.25% 8 3.01% EURY/MACRO BLEPHARON 2 0.45% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.22% GLAND PROLAPSE 1 0.22% 2 0.75% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.22% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 6 1.34% 6 2.26% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 5 1.12% 3 1.13% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 7 1.57% 8 3.01% UVEA IRIS / CILIARY BODY CYSTS 10.38% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.38% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 6 1.34% 4 1.50% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.22% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 34 7.61% 14 5.26% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.89% ANTERIOR CORTEX PUNCTATE* 4 0.89% ANTERIOR CORTEX INTERMEDIATE* 4 0.89% 8 3.01% ANTERIOR CORTEX DIFFUSE* 5 1.12% ANTERIOR CORTEX SUSPICIOUS 1 0.22% ANT. CORTEX PUNCT. SIGN. UNKNOWN 7 1.57% 7 2.63% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.22% POSTERIOR CORTEX PUNCTATE* 3 0.67% POSTERIOR CORTEX INTERMEDIATE* 9 2.01% 4 1.50% POSTERIOR CORTEX DIFFUSE* 1 0.22% 1 0.38% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.22% EQUATORIAL CORTEX PUNCTATE* 3 0.67% EQUATORIAL CORTEX INTERMEDIATE* 1 0.22% 2 0.75% EQUATORIAL CORTEX DIFFUSE* 1 0.22% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.22% ANTERIOR SUTURES INTERMEDIATE* 3 0.67% 1 0.38% ANTERIOR SUTURES DIFFUSE* 2 0.45% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.67% 1 0.38% POSTERIOR SUTURES INTERMEDIATE* 1 0.22% 1 0.38% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.67% NUCLEUS PUNCTATE* 1 0.22% NUCLEUS INTERMEDIATE* 2 0.45% 1 0.38% NUCLEUS DIFFUSE* 1 0.22% 1 0.38%

LHASA APSO

1991 - 1999 2000-2007 NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.22% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.22% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.22% GENERALIZED CATARACT* 5 1.12% 1 0.38% SUBLUXATION/LUXATION 10.38% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 2 0.45% 1 0.38% DEGENERATION ANTERIOR CHAMBER 20.75% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.22% 3 1.13% RETINAL ATROPHY--SUSPICIOUS 2 0.45% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.45% 2 0.75% RETINAL DYSPLASIA GEOGRAPHIC 1 0.22% 2 0.75% CHOROIDAL HYPOPLASIA 10.38% OPTIC NERVE COLOBOMA 1 0.22% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.22% MICROPAPILLA 10.38% OTHER OTHER, INHERITED 12 2.68% 7 2.63% OTHER, NON -INHERITED 11 4.14% NORMAL NORMAL 340 76.06% 206 77.44%

LOWCHEN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1,2 Breeder option

B. Chronic superficial Not defined 2 NO keratitis/pannus

C. Persistent pupillary membranes - iris to iris Not defined 1,3 Breeder option - all other forms Not defined 3 NO

D. Cataract Not defined 1 NO

E. Vitreous Not defined 1 Breeder option degeneration

F. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Distichiasis

B. Pannus / Chronic superficial keratitis

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment and/or glaucoma.

F. Retinal atrophy-generalized

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Lowchen breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

LOWCHEN

1991 - 1999 2000-2007 TOTAL NUMBER OF LOWCHEN EXAMINED 503 722

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 10.14% DISTICHIASIS 13 2.58% 36 4.99% ECTOPIC CILIA 10.14% CORNEA DYSTROPHY--ENDOTHELIAL 2 0.40% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.14% UVEA IRIS COLOBOMA 10.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 23 4.57% 67 9.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.20% 1 0.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.28% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 35 6.96% 30 4.16% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.80% ANTERIOR CORTEX PUNCTATE* 1 0.20% 3 0.42% ANTERIOR CORTEX INTERMEDIATE* 8 1.59% 9 1.25% ANTERIOR CORTEX DIFFUSE* 2 0.40% 2 0.28% ANT. CORTEX PUNCT. SIGN. UNKNOWN 9 1.79% 7 0.97% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 8 1.59% POSTERIOR CORTEX PUNCTATE* 4 0.80% 3 0.42% POSTERIOR CORTEX INTERMEDIATE* 9 1.79% 9 1.25% POSTERIOR CORTEX DIFFUSE* 20.28% POSTERIOR CORTEX SUSPICIOUS 2 0.40% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% 3 0.42% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.40% EQUATORIAL CORTEX PUNCTATE* 2 0.40% 2 0.28% EQUATORIAL CORTEX INTERMEDIATE* 1 0.20% 3 0.42% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.20% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.20% ANTERIOR SUTURES PUNCTATE* 10.14% ANTERIOR SUTURES INTERMEDIATE* 1 0.20% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.28% POSTERIOR SUTURES PUNCTATE* 1 0.20% 2 0.28% POSTERIOR SUTURES INTERMEDIATE* 3 0.60% 1 0.14% POSTERIOR SUTURES SUSPICIOUS 1 0.20% NUCLEUS (SIZE UNSPECIFIED)* 2 0.40% NUCLEUS PUNCTATE* 10.14% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.14% ANTERIOR CAPSULE 3 0.60% ANTERIOR CAPSULE SUSPICIOUS 1 0.20% CAPSULAR PUNCTATE 10.14% CAPSULAR INTERMEDIATE 20.28% CAPSULAR SIGN. UNKNOWN 50.69% GENERALIZED CATARACT* 7 1.39% 1 0.14% SUBLUXATION/LUXATION 1 0.20% 1 0.14%

LOWCHEN

1991 - 1999 2000-2007 VITREOUS PERSISTENT HYALOID ARTERY 3 0.60% DEGENERATION (NO FURTHER SPECIFICATION) 15 2.98% 10 1.39% DEGENERATION ANTERIOR CHAMBER 20.28% DEGENERATION SYNERESIS 91.25% FUNDUS RETINAL ATROPHY--GENERALIZED 7 1.39% 3 0.42% RETINAL ATROPHY--SUSPICIOUS 16 3.18% 10 1.39% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.20% 1 0.14% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.20% CHOROIDAL HYPOPLASIA 2 0.40% RETINAL DETACHMENT 2 0.40% OPTIC NERVE COLOBOMA 1 0.20% MICROPAPILLA 1 0.20% OTHER OTHER, INHERITED 2 0.40% OTHER, NON -INHERITED 2 0.40% 30 4.16% NORMAL NORMAL 384 76.34% 591 81.86%

MALTESE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 Breeder option

B. Persistent pupillary Not defined 3 Breeder option membranes - iris to iris

C. Cataract Not defined 1,2 NO

D. Retinal atrophy Presumed 1 NO -generalized autosomal recessive

Description and Comments

A. Entropion

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal atrophy-generalized

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Maltese breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Gelatt KN, MacKay EO: Prevalence of primary breed-related cataracts in the dog in North America. Vet Ophth 8(2): 101, 2005.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

MALTESE

1991 - 1999 2000-2007 TOTAL NUMBER OF MALTESE EXAMINED 60 114

Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 10.88% EYELIDS ENTROPION 2 3.33% 2 1.75% DISTICHIASIS 2 3.33% 1 0.88% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 1.67% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 1.67% 7 6.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 6 10.00% 9 7.89% ANTERIOR CORTEX INTERMEDIATE* 1 1.67% 4 3.51% ANTERIOR CORTEX DIFFUSE* 10.88% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.88% POSTERIOR CORTEX PUNCTATE* 2 3.33% 1 0.88% POSTERIOR CORTEX INTERMEDIATE* 2 3.33% 6 5.26% POSTERIOR CORTEX DIFFUSE* 10.88% POST. CORTEX PUNCT. SIGN. UNKNOWN 21.75% EQUATORIAL CORTEX PUNCTATE* 10.88% EQUATORIAL CORTEX INTERMEDIATE* 1 1.67% 1 0.88% ANTERIOR SUTURES PUNCTATE* 10.88% POSTERIOR SUTURES PUNCTATE* 10.88% POSTERIOR SUTURES INTERMEDIATE* 10.88% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 21.75% NUCLEUS INTERMEDIATE* 1 1.67% 1 0.88% CAPSULAR PUNCTATE 10.88% CAPSULAR INTERMEDIATE 10.88% CAPSULAR SIGN. UNKNOWN 32.63% GENERALIZED CATARACT* 1 1.67% VITREOUS PERSISTENT HYALOID ARTERY 1 1.67% DEGENERATION (NO FURTHER SPECIFICATION) 1 1.67% DEGENERATION ANTERIOR CHAMBER 10.88% FUNDUS RETINAL ATROPHY--GENERALIZED 2 3.33% RETINAL ATROPHY--SUSPICIOUS 1 1.67% 1 0.88% RETINAL DYSPLASIA FOCAL/FOLDS 21.75% RETINAL DYSPLASIA GEOGRAPHIC 10.88% OTHER OTHER, NON -INHERITED 54.39% NORMAL NORMAL 47 78.33% 87 76.32%

MAREMMA SHEEPDOG (Pastore Maremmano-Abruzzese)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder Option membranes

B. Cataract Not defined 1 NO

C. Progressive retinal Not defined 1 NO atrophy

D. Retinal dysplasia Not defined 1 Breeder Option -folds

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Progressive retinal atrophy

A degenerative disease of the retinal visual cells which progresses to blindness.

D. Retinal dysplasia

Abnormal development of the retina present at birth and recognized to have three forms:

Retinal dysplasia - focal folds: linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple.

Retinal dysplasia - geographic: any irregularly shaped area of abnormal retinal development, representing changes not accountable by simple folding.

Reitnal dysplasia - detachment: either of the above described forms of retinal dysplasia associated with separation (detachment) of the retina.

References

1. Bandini, M. et al: Ocular Disorders assumed to be inherited in the Pastore Maremmano- Abruzzesse. European College of Veterinary Ophthalmologists/ESVO Annual Meeting Proceedings 2001.

MASTIFF

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 3 Breeder option

B. Ectropion Not defined 1 Breeder option

C. Entropion Not defined 1,2 Breeder option

D. Corneal dystrophy- Not defined 8 Breeder option epithelial/stromal

E. Corneal dystrophy- Not defined 9,11 NO endothelial

F. Macroblepharon/ Not defined 1 Breeder option exposure keratopathy syndrome

G. Iris cysts Not defined 7 Breeder option

H. Persistent pupillary membranes - iris to iris Not defined 1,3,7 Breeder option - iris to lens Not defined 3 NO - iris to cornea Not defined 3 NO - all other forms Not defined 7 NO

I. Cataract Not defined 1 NO

J. Retinal dysplasia Not defined 1 Breeder option - folds

K. Retinal atrophy Dominant 1,4,5,6 NO - generalized

L. Multifocal retinopathy Autosomal 10 NO - cmr1 recessive

It is recommended that this breed be examined prior to pharmacological dilation to best facilitate identification of persistent pupillary membrane in this breed.

Description and Comments

A. Distichiasis

B. Ectropion

A conformational defect resulting in eversion of the eyelids, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Entropion in the Mastiff is severe and may require multiple surgical corrections.

D. Corneal dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Corneal dystrophy- endothelial

F. Macroblepharon/exposure keratopathy syndrome

Abnormally large eyelid opening; may lead to secondary conditions associated with corneal exposure which is further complicated by anatomic features including shallow orbits, excessive exophthalmia, and lagophthalmos.

G. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

There is usually no effect on vision unless the cysts are heavily clustered and impinge on the pupillary area. Less frequently, the cysts may rupture and adhere to the cornea or anterior lens capsule. Multiple cysts may occlude the iridocorneal angle and cause glaucoma.

H. Persistent pupillary membranes (PPM)

In the Mastiff, the strands most often bridge from the iris to the cornea and may potentially cause vision impairment. Thus, the strong recommendations against breeding animals with any form of this abnormality.

I. Cataract

J. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined

K. Retinal atrophy-generalized

For DNA testing contact Optigen®: Dominant PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

L. Multifocal retinopathy

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. Cideciyan, A. V., et al: In Vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis. PNAS 102:14, 2005.

5. Kijas J. W, et al: Naturally occurring rhodpsin in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. PNAS 99:9, 2002.

6. Kijas, J. W., et al:Canine Models of Ocular Disease: Outcross Breedings Define a Dominant Disorder Present in the English Mastiff Dog Breeds. Journal of Heredity 94:1, 2003.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

8. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

9. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

10. Guziewicz KE, Zangerl B, Lindauer SJ, et al. Bestrophin gene mutations cause canine multifocal rertinopathy: A novel animal model for best disease. Investigative Ophthal & Visual Science,48:1959-1967, 2007.

11. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

MASTIFF ( ENGLISH )

1991 - 1999 2000-2007 TOTAL NUMBER OF MASTIFF ( ENGLISH ) EXAMINED 3366 3285

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 9 0.27% 8 0.24% DRY EYE 3 0.09% GLAUCOMA 1 0.03% 1 0.03% EYELIDS ENTROPION 127 3.77% 161 4.90% ECTROPION 248 7.37% 226 6.88% DISTICHIASIS 38 1.13% 37 1.13% EURY/MACRO BLEPHARON 110 3.27% 164 4.99% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.09% 3 0.09% GLAND PROLAPSE 4 0.12% 7 0.21% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 14 0.42% 18 0.55% DYSTROPHY--ENDOTHELIAL 17 0.51% 27 0.82% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.06% 1 0.03% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.06% 1 0.03% UVEA IRIS / CILIARY BODY CYSTS 21 0.62% 37 1.13% IRIS COLOBOMA 1 0.03% 2 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 75 2.23% 119 3.62% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 31 0.92% 20 0.61% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 166 4.93% 172 5.24% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 9 0.27% 10 0.30% ENDOTHELIAL PIGMENT/NO PPM 40.12% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 115 3.42% 91 2.77% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 9 0.27% ANTERIOR CORTEX PUNCTATE* 26 0.77% 18 0.55% ANTERIOR CORTEX INTERMEDIATE* 30 0.89% 24 0.73% ANTERIOR CORTEX DIFFUSE* 4 0.12% 4 0.12% ANTERIOR CORTEX SUSPICIOUS 1 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 94 2.79% 82 2.50% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.03% POSTERIOR CORTEX PUNCTATE* 5 0.15% 3 0.09% POSTERIOR CORTEX INTERMEDIATE* 16 0.48% 14 0.43% POSTERIOR CORTEX DIFFUSE* 3 0.09% 4 0.12% POST. CORTEX PUNCT. SIGN. UNKNOWN 5 0.15% 4 0.12% EQUATORIAL CORTEX PUNCTATE* 3 0.09% 1 0.03% EQUATORIAL CORTEX INTERMEDIATE* 10 0.30% 6 0.18% EQUATORIAL CORTEX DIFFUSE* 2 0.06% 1 0.03% EQUATORIAL CORTEX SUSPICIOUS 1 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.15% 6 0.18% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.03% ANTERIOR SUTURES PUNCTATE* 4 0.12% 5 0.15% ANTERIOR SUTURES INTERMEDIATE* 2 0.06% 5 0.15%

MASTIFF ( ENGLISH )

1991 - 1999 2000-2007 ANTERIOR SUTURES DIFFUSE* 1 0.03% 1 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 17 0.51% 15 0.46% POSTERIOR SUTURES PUNCTATE* 50.15% POSTERIOR SUTURES INTERMEDIATE* 3 0.09% 2 0.06% POSTERIOR SUTURES DIFFUSE* 1 0.03% 1 0.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 17 0.51% 12 0.37% POSTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 10.03% NUCLEUS (SIZE UNSPECIFIED)* 3 0.09% NUCLEUS PUNCTATE* 4 0.12% 2 0.06% NUCLEUS INTERMEDIATE* 12 0.36% 17 0.52% NUCLEUS DIFFUSE* 1 0.03% 2 0.06% NUCLEUS SUSPICIOUS 1 0.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 23 0.68% 10 0.30% ANTERIOR CAPSULE 3 0.09% ANTERIOR CAPSULE SUSPICIOUS 1 0.03% CAPSULAR PUNCTATE 3 0.09% 10 0.30% CAPSULAR INTERMEDIATE 70.21% CAPSULAR DIFFUSE 20.06% CAPSULAR SIGN. UNKNOWN 19 0.58% POSTERIOR CAPSULE 1 0.03% GENERALIZED CATARACT* 5 0.15% 6 0.18% SUBLUXATION/LUXATION 4 0.12% 1 0.03% VITREOUS PERSISTENT HYALOID ARTERY 7 0.21% 1 0.03% PHPV/PTVL 2 0.06% 3 0.09% DEGENERATION (NO FURTHER SPECIFICATION) 4 0.12% 6 0.18% DEGENERATION ANTERIOR CHAMBER 10.03% FUNDUS RETINAL ATROPHY--GENERALIZED 71 2.11% 24 0.73% RETINAL ATROPHY--SUSPICIOUS 43 1.28% 9 0.27% RETINAL DYSPLASIA FOCAL/FOLDS 268 7.96% 256 7.79% RETINAL DYSPLASIA GEOGRAPHIC 16 0.48% 24 0.73% RETINAL DYSPLASIA GENERALIZED/DETACHED 3 0.09% 2 0.06% CHOROIDAL HYPOPLASIA 10.03% RETINAL DETACHMENT 1 0.03% 3 0.09% OPTIC NERVE COLOBOMA 2 0.06% 2 0.06% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.06% MICROPAPILLA 1 0.03% 1 0.03% OTHER OTHER, INHERITED 43 1.28% 22 0.67% OTHER, NON -INHERITED 12 0.36% 124 3.77% NORMAL NORMAL 2191 65.09% 2258 68.74%

MIKI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 4 NO

B. Distichiasis Not defined 3 Breeder option

C. Corneal dystrophy Not defined 4 Breeder option - epithelial/stromal

D. Persistent pupillary Not defined 1 Breeder option membranes- - iris to iris

E. Cataract Not defined 1 NO

F. Vitreous degeneration - anterior chamber Not defined 1,2 Breeder option - syneresis Not defined 1,2 Breeder option

Description and Comments

A. Entropion

B. Distichiasis

C. Corneal dystrophy- epithelial/stromal

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Miki breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

2 ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003- 2004.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All-Breeds Report, 2001- 2005.

4. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003- 2007.

MI-KI

1991 - 1999 2000-2007 TOTAL NUMBER OF MI-KI EXAMINED 679

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 91.33% DISTICHIASIS 95 13.99% EURY/MACRO BLEPHARON 20.29% THIRD EYELID GLAND PROLAPSE 10.15% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 81.18% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.15% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.15% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 73 10.75% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 25 3.68% ANTERIOR CORTEX PUNCTATE* 20.29% ANTERIOR CORTEX INTERMEDIATE* 20.29% ANT. CORTEX PUNCT. SIGN. UNKNOWN 71.03% POSTERIOR CORTEX PUNCTATE* 10.15% POSTERIOR CORTEX INTERMEDIATE* 20.29% EQUATORIAL CORTEX INTERMEDIATE* 71.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 30.44% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 60.88% POSTERIOR SUTURES PUNCTATE* 91.33% POSTERIOR SUTURES INTERMEDIATE* 11 1.62% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 40 5.89% CAPSULAR SIGN. UNKNOWN 71.03% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.15% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 27 3.98% DEGENERATION ANTERIOR CHAMBER 15 2.21% DEGENERATION SYNERESIS 12 1.77% FUNDUS RETINAL ATROPHY--SUSPICIOUS 20.29% RETINAL DYSPLASIA FOCAL/FOLDS 30.44% RETINAL DYSPLASIA GEOGRAPHIC 20.29% OPTIC NERVE COLOBOMA 10.15% OPTIC NERVE HYPOPLASIA 10.15% MICROPAPILLA 10.15% OTHER OTHER, INHERITED 60.88% OTHER, NON -INHERITED 44 6.48% NORMAL NORMAL 469 69.07%

MINIATURE AUSTRALIAN SHEPHERD (North American Shepherd, North American Miniature Australian Shepherd)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary Not defined 1,2 Breeder option membranes - iris to iris

C. Iris coloboma Not defined 1 Breeder option

D. Cataract Not defined 1 NO

E. Retinal atrophy Autosomal * - generalized recessive

F. Choroidal Simple * hypoplasia recessive

* A mutation-based DNA test is available.

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Iris coloboma

A coloboma is a congenital defect which may affect the iris, choroid or optic disc. Iris colobomas are seen as notches in the pupillary margin or thinned areas or “holes” within the iris stroma. Iris colobomas may or may not be associated with choroidal or scleral colobomas.

D. Cataract

E Retinal atrophy- generalized (PRA)

F. Choroidal hypoplasia

A congenital defect in which the choroid develops incompletely. The clinical appearance is similar to the same condition reported in Collies and Shetland Sheepdogs.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Miniature Australian Shepherd dog breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All Breeds Report, 2003- 2004.

MINIATURE AUSTRALIAN SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF MINIATURE AUSTRALIAN SHEPHERD 856 5668 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.12% 15 0.26% EYELIDS DISTICHIASIS 41 4.79% 302 5.33% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.23% 36 0.64% DYSTROPHY--ENDOTHELIAL 40.07% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.02% UVEA IRIS COLOBOMA 9 1.05% 136 2.40% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 50.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 24 2.80% 450 7.94% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.23% 4 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 40.07% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.23% 7 0.12% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 8 0.93% 46 0.81% ANTERIOR CORTEX PUNCTATE* 4 0.47% 6 0.11% ANTERIOR CORTEX INTERMEDIATE* 3 0.35% 13 0.23% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.23% 23 0.41% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.02% POSTERIOR CORTEX PUNCTATE* 1 0.12% 2 0.04% POSTERIOR CORTEX INTERMEDIATE* 15 0.26% POSTERIOR CORTEX DIFFUSE* 30.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 50.09% EQUATORIAL CORTEX PUNCTATE* 1 0.12% 3 0.05% EQUATORIAL CORTEX INTERMEDIATE* 30.05% ANTERIOR SUTURES PUNCTATE* 30.05% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.23% 4 0.07% POSTERIOR SUTURES PUNCTATE* 3 0.35% 4 0.07% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.35% 12 0.21% NUCLEUS PUNCTATE* 40.07% NUCLEUS INTERMEDIATE* 20.04% NUCLEUS DIFFUSE* 10.02% NUCLEUS PUNCTATE SIGN. UNKNOWN 30.05% NUCLEUS INTERMEDIATE SIGN. UNKNOWN 10.02% CAPSULAR PUNCTATE 1 0.12% 4 0.07% CAPSULAR INTERMEDIATE 30.05% CAPSULAR SIGN. UNKNOWN 4 0.47% 9 0.16% SUBLUXATION/LUXATION 10.02% VITREOUS PERSISTENT HYALOID ARTERY 3 0.35% 19 0.34% PHPV/PTVL 20.04% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.23% 6 0.11% DEGENERATION ANTERIOR CHAMBER 40.07%

MINIATURE AUSTRALIAN SHEPHERD

1991 - 1999 2000-2007 DEGENERATION SYNERESIS 20.04% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.23% 7 0.12% RETINAL ATROPHY--SUSPICIOUS 3 0.35% 5 0.09% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.12% 19 0.34% RETINAL DYSPLASIA GEOGRAPHIC 10.02% CHOROIDAL HYPOPLASIA 3 0.35% 11 0.19% STAPHYLOMA / COLOBOMA 2 0.23% 4 0.07% RETINAL DETACHMENT 10.02% OPTIC NERVE COLOBOMA 6 0.70% 7 0.12% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.23% OPTIC NERVE HYPOPLASIA 12 0.21% MICROPAPILLA 20 0.35% OTHER OTHER, INHERITED 3 0.35% 6 0.11% OTHER, NON -INHERITED 3 0.35% 142 2.51% NORMAL NORMAL 753 87.97% 4908 86.59%

MINIATURE BULL TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 3 Breeder option - endothelial

B. Persistent pupillary membranes - iris to iris Not defined 1,4 Breeder option - all other forms Not defined 4 NO

C. Cataract Not defined 4 NO

D. Lens luxation Not defined 1,2,5 NO

E. Vitreous Not defined 3,4 Breeder option degeneration

Description and Comments

A. Corneal dystrophy- endothelial

B. Persistent pupillary membranes (PPM)

Although the total number of Miniature Bull Terriers presented for CERF examination is not large, the incidence of PPM in this breed is approximately 10% in recent years. Some of these PPM's have been iris to cornea and iris to lens. Considerable discretion should be used before breeding a dog with the latter more severe forms of PPM.

C. Cataract

D. Lens luxation

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Miki breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Curtis R, Barnett KC, Startup FG: Primary lens luxation in the miniature bull terrier. Vet Rec 112: 328, 1983.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

5. Sargan DR, Withers D, Pettitt L, et al: Mapping the mutation causing lens luxation in several terrier breeds. J Heredity 98(5):534-358, 2007.

MINIATURE BULL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF MINIATURE BULL TERRIER EXAMINED 432 479

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.46% 1 0.21% DRY EYE 10.21% GLAUCOMA 1 0.23% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.23% 1 0.21% DYSTROPHY--ENDOTHELIAL 7 1.62% 6 1.25% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 41 9.49% 25 5.22% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 22 5.09% 18 3.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 36 8.33% 33 6.89% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 6 1.39% 2 0.42% ENDOTHELIAL PIGMENT/NO PPM 20.42% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 14 3.24% 7 1.46% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.23% ANTERIOR CORTEX PUNCTATE* 7 1.62% 1 0.21% ANTERIOR CORTEX INTERMEDIATE* 7 1.62% 3 0.63% ANTERIOR CORTEX DIFFUSE* 10.21% ANT. CORTEX PUNCT. SIGN. UNKNOWN 8 1.85% 5 1.04% POSTERIOR CORTEX PUNCTATE* 10.21% POSTERIOR CORTEX INTERMEDIATE* 1 0.23% 1 0.21% POSTERIOR CORTEX DIFFUSE* 1 0.23% POST. CORTEX PUNCT. SIGN. UNKNOWN 20.42% ANTERIOR SUTURES INTERMEDIATE* 10.21% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.46% 1 0.21% POSTERIOR SUTURES PUNCTATE* 10.21% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.23% 1 0.21% ANTERIOR CAPSULE 1 0.23% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.23% CAPSULAR PUNCTATE 30.63% CAPSULAR INTERMEDIATE 61.25% CAPSULAR SIGN. UNKNOWN 4 0.93% 7 1.46% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 20.42% SUBLUXATION/LUXATION 24 5.56% 19 3.97% VITREOUS PERSISTENT HYALOID ARTERY 10.21% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.69% 5 1.04% DEGENERATION SYNERESIS 40.84% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.23% 3 0.63% RETINAL ATROPHY--SUSPICIOUS 2 0.46% 3 0.63% RETINAL DYSPLASIA GEOGRAPHIC 10.21% OPTIC NERVE COLOBOMA 10.21% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.46% OPTIC NERVE HYPOPLASIA 10.21%

MINIATURE BULL TERRIER

1991 - 1999 2000-2007 MICROPAPILLA 2 0.46% 5 1.04% OTHER OTHER, INHERITED 13 3.01% 2 0.42% OTHER, NON -INHERITED 1 0.23% 24 5.01% NORMAL NORMAL 302 69.91% 358 74.74%

MINIATURE PINSCHER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

B. Persistent pupillary membranes -iris to iris Not defined 2,3 Breeder option -all other forms Not defined 3 NO

C. Cataract Not defined 1 NO

D. Vitreous Not defined 1 Breeder option degeneration

E. Retinal atrophy Presumed 2 NO -generalized autosomal recessive

F. Optic nerve Not defined 2 NO hypoplasia

G. Optic nerve- Not defined 2 Breeder option Micropapilla

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

E. Retinal atrophy-generalized

F. Optic nerve hypoplasia

G. Optic nerve- micropapilla

Hypoplasia of the optic nerve is seen in the poodle. In this condition, the optic nerve fails to develop completely. The signs have a variety of expression and degrees of hypoplasia can be found. One or both eyes may be affected. Affected eyes may retain some function or be blind. The mode of inheritance is not clear.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Miniature Pinscher. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

MINIATURE PINSCHER

1991 - 1999 2000-2007 TOTAL NUMBER OF MINIATURE PINSCHER EXAMINED 253 302

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.79% EYELIDS ENTROPION 2 0.79% ECTROPION 1 0.40% DISTICHIASIS 3 1.19% 2 0.66% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 20 7.91% 17 5.63% DYSTROPHY--ENDOTHELIAL 1 0.40% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.40% 1 0.33% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 20.66% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 2.77% 12 3.97% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 14 5.53% 6 1.99% ANTERIOR CORTEX PUNCTATE* 3 1.19% 2 0.66% ANTERIOR CORTEX INTERMEDIATE* 5 1.98% 3 0.99% ANT. CORTEX PUNCT. SIGN. UNKNOWN 30.99% POSTERIOR CORTEX PUNCTATE* 41.32% POSTERIOR CORTEX INTERMEDIATE* 3 1.19% 3 0.99% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.79% EQUATORIAL CORTEX INTERMEDIATE* 3 1.19% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 1.58% 4 1.32% ANTERIOR SUTURES SUSPICIOUS 1 0.40% POSTERIOR SUTURES PUNCTATE* 2 0.79% 1 0.33% POSTERIOR SUTURES INTERMEDIATE* 1 0.40% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 41.32% NUCLEUS PUNCTATE SIGN. UNKNOWN 41.32% CAPSULAR PUNCTATE 10.33% CAPSULAR INTERMEDIATE 10.33% CAPSULAR DIFFUSE 2 0.79% CAPSULAR SIGN. UNKNOWN 1 0.40% 1 0.33% GENERALIZED CATARACT* 4 1.58% SUBLUXATION/LUXATION 2 0.79% VITREOUS PERSISTENT HYALOID ARTERY 2 0.79% 2 0.66% PHPV/PTVL 2 0.79% DEGENERATION (NO FURTHER SPECIFICATION) 8 3.16% 14 4.64% DEGENERATION ANTERIOR CHAMBER 51.66% DEGENERATION SYNERESIS 41.32% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.79% 2 0.66% RETINAL ATROPHY--SUSPICIOUS 6 2.37% 1 0.33% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.79% STAPHYLOMA / COLOBOMA 1 0.40% RETINAL DETACHMENT 30.99%

MINIATURE PINSCHER

1991 - 1999 2000-2007 OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 1.98% OPTIC NERVE HYPOPLASIA 41.32% OTHER OTHER, INHERITED 5 1.98% 2 0.66% OTHER, NON -INHERITED 1 0.40% 24 7.95% NORMAL NORMAL 183 72.33% 232 76.82%

MINIATURE SCHNAUZER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Presumed 1-4 NO congenital cataract autosomal recessive

B. Distichiasis Not defined 17 Breeder option

C. Keratoconjunctivitis Not defined 1,5 NO sicca (dry eye)

D. Persistent pupillary Not defined 17 Breeder option membranes - iris to iris

E. Cataract Presumed 1,6-9,12 NO autosomal recessive

F. Retinal atrophy- Presumed 1,10,13 NO Photoreceptor autosomal dysplasia (pd) recessive

G. Retinal atrophy Not defined 11,14 NO - low amplitude electroretinogram

H. Ceroid lipofuscinosis Presumed 15,16 NO autosomal recessive

I. Retinal dysplasia Autosomal 18,19 NO all forms with or recessive without persistent hyperplastic primary vitreous

Description and Comments

A. Microphthalmia with congenital cataract

Congenital nuclear and posterior cortical lens opacities that progress slowly. In some cases, these cataracts appear similar to the congenital cataracts described in “E” below. An associated abnormality in this defect is microphthalmia that is often mild and is accompanied by a 1-3 mm reduction in the axial length of the globe as determined by ultrasonography. Congenital cataracts and microphthalmia are inherited as an autosomal recessive disorder.

B. Distichiasis

C. Keratoconjunctivitis sicca (KCS)/dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

D. Persistent pupillary membranes (PPM)

E. Cataract

Congenital cataracts in the miniature schnauzer are bilateral and appear prior to 6 weeks of age. At this time they may already involve the entire lens. Others will first appear as posterior subcapsular opacities and usually progress to complete cataracts. These congenital cataracts are inherited as an autosomal recessive trait. Later-onset cataracts may represent a genetically distinct entity. There are other types of cataract in the breed which are also likely hereditary.

Note: It is not certain whether A and E are genetically distinct, or different manifestations of the same entity, as eyes affected with cataracts are often smaller than normal.

F. Retinal atrophy - photoreceptor dysplasia (pd)

A form of PRA in the Miniature Schnauzer characterized as an autosomal recessive genetic disorder. The name “photoreceptor dysplasia” refers specifically to this disease. The dysplasia results from the abnormal development of visual cells followed by their slow degeneration. The disorder appears to affect the generation of an electrical signal within the retinal photoreceptor cells. Although fundus abnormalities usually are not present until 3-5 years of age, abnormalities of the electroretinogram can be demonstrated by 8-10 weeks of age. Clinical signs include mildly impaired night vision and variable rate of progression.

A mutation test is now available. Type A PRA is only one of several (at least 2) forms of retinal atrophy in the Miniature Schnauzer. For DNA testing contact Optigen®: Type A-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

G. Retinal atrophy - low amplitude electroretinogram ("low amplitude ERG")

This is a slowly progressive functional defect of the electroretinogram (ERG) that is characterized by a normal waveform but a lower than normal amplitude. "Low amplitude" has been detected as early as 16 weeks of age. When first detected, vision is normal and the retina is ophthalmoscopically normal. The significance of "low amplitude" is uncertain. Unpublished work (Parshall CJ and Aguirre G) suggests that animals having this functional deficit may develop PRA at a later age (10-13 years).

H. Ceroid lipofuscinosis

I. Retinal dysplasia all forms with or without persistent hyperplastic primary vitreous

Abnormal development of the retina present at birth usually recognized to have three forms, folds, geographic and retinal detachment as described below. In the Miniature Schnauzer Retinal dysplasia is also associated with persistent hyperplastic primary vitreous

1) Retinal dysplasia - folds: linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. 2) Retinal dysplasia - geographic: any irregularly shaped area of abnormal retinal development, representing changes not accountable by simple folding. 3) Retinal dysplasia - detachment: either of the above described forms of retinal dysplasia associated with separation (detachment) of the retina. 4) Retinal dysplasia with persistent hyperplastic primary vitreous

The three latter forms are associated with vision impairment or blindness in the Miniature Schnauzer.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. Gelatt KN et al: Inheritance of congenital cataracts and microphthalmia in the miniature Schnauzer. Am J Vet Res 44: 1130, 1983.

3. Gelatt KN et al: Biometry and characteristics of congenital cataracts and microphthalmia in the miniature schnauzer. J Am Vet Med Assoc 183:99, 1983.

4. Shastry BS, Reddy VN: Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog. Biochem & Biophysical Res Commun 203(3):1663, 1994.

5. Aguirre GD, Rubin LF, Harvey CE: Keratoconjunctivitis sicca in dogs. J Am Vet Med Assoc 160:1504, 1972.

6. Rubin LF, Koch SA, Huber RJ: Hereditary cataracts in miniature Schnauzers. J Am Vet Med Assoc 154:1456, 1969.

7. Donovan R: Congenital cataracts in the miniature schnauzer. Trans Am Coll Vet Ophthalmol 2:36, 1971

8. Barnett KC: Hereditary cataract in the dog. J Small Anim Pract 19:109, 1978.

9. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

10. Barnett KC: Hereditary cataracts in the miniature schnauzer. J Small Anim Pract 26:635, 1985.

11. Monaco MA, Samuelson DA, Gelatt KN: Morphology and postnatal development of the normal lens in the dog and congenital cataract in the miniature Schnauzer. Lens Research 2:393, 1985.

12. Samuelson DA, et al: Prenatal morphogenesis of the congenital cataracts in the miniature Schnauzer. Lens Res 4:231, 1987.

13. Aguirre G et al: Progressive retinal atrophy in the miniature Schnauzer. Trans Am Coll Vet Ophthalmol 16:226, 1985.

14. Parshall C, Wyman M, Nitroy S, et al: Photoreceptor dysplasia: An inherited progressive retinal atrophy of miniature Schnauzer dogs. Prog Vet Comp Ophth 1:187, 1991.

15. Jolly RD, Palmer DN, Studdert VP, et al: Canine ceroid-lipofuscinoses: A review and classification. J Small Anim Pract 35:299, 1994.

16. Smith RIE, Sutton RH, Jolly RD, et al: A retinal degeneration associated with ceroid- lipofuscinosis in adult miniature Schnauzers. Vet Comp Ophthalmol 6:187, 1996.

17. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

18. Grahn, B. H., Storey E. S., and McMillan, C: Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs. Vet Ophth 7:3, 2004.

19. Grahn, B. H., Storey, E. S., and McMillan, C:Inherited Retinal Dysplasia in Miniature Schnauzer Dogs. ACVO Proceedings, 2003.

MINIATURE SCHNAUZER

1991 - 1999 2000-2007 TOTAL NUMBER OF MINIATURE SCHNAUZER EXAMINED 8082 11244

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 9 0.11% 7 0.06% DRY EYE 20.02% EYELIDS ENTROPION 3 0.04% DISTICHIASIS 154 1.91% 223 1.98% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.01% GLAND PROLAPSE 1 0.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 47 0.58% 50 0.44% DYSTROPHY--ENDOTHELIAL 4 0.05% 8 0.07% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.02% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.02% 3 0.03% UVEA IRIS / CILIARY BODY CYSTS 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 55 0.68% 248 2.21% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 11 0.14% 27 0.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 19 0.24% 36 0.32% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.02% 10 0.09% ENDOTHELIAL PIGMENT/NO PPM 30.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 184 2.28% 183 1.63% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.21% ANTERIOR CORTEX PUNCTATE* 30 0.37% 27 0.24% ANTERIOR CORTEX INTERMEDIATE* 35 0.43% 26 0.23% ANTERIOR CORTEX DIFFUSE* 7 0.09% 12 0.11% ANTERIOR CORTEX SUSPICIOUS 9 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 64 0.79% 85 0.76% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 20 0.25% POSTERIOR CORTEX PUNCTATE* 9 0.11% 15 0.13% POSTERIOR CORTEX INTERMEDIATE* 36 0.45% 54 0.48% POSTERIOR CORTEX DIFFUSE* 5 0.06% 17 0.15% POSTERIOR CORTEX SUSPICIOUS 7 0.09% POST. CORTEX PUNCT. SIGN. UNKNOWN 15 0.19% 14 0.12% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 7 0.09% EQUATORIAL CORTEX PUNCTATE* 8 0.10% 7 0.06% EQUATORIAL CORTEX INTERMEDIATE* 16 0.20% 21 0.19% EQUATORIAL CORTEX DIFFUSE* 3 0.04% 3 0.03% EQUATORIAL CORTEX SUSPICIOUS 3 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 13 0.16% 17 0.15% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.02% ANTERIOR SUTURES PUNCTATE* 5 0.06% 8 0.07% ANTERIOR SUTURES INTERMEDIATE* 2 0.02% 4 0.04% ANTERIOR SUTURES DIFFUSE* 1 0.01% 2 0.02% ANTERIOR SUTURES SUSPICIOUS 1 0.01%

MINIATURE SCHNAUZER

1991 - 1999 2000-2007 ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.02% 17 0.15% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.02% POSTERIOR SUTURES PUNCTATE* 10 0.12% 20 0.18% POSTERIOR SUTURES INTERMEDIATE* 10 0.12% 9 0.08% POSTERIOR SUTURES DIFFUSE* 2 0.02% 4 0.04% POSTERIOR SUTURES SUSPICIOUS 1 0.01% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.09% 43 0.38% NUCLEUS (SIZE UNSPECIFIED)* 7 0.09% NUCLEUS PUNCTATE* 4 0.05% 4 0.04% NUCLEUS INTERMEDIATE* 8 0.10% 7 0.06% NUCLEUS DIFFUSE* 2 0.02% 3 0.03% NUCLEUS SUSPICIOUS 1 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 12 0.15% 17 0.15% ANTERIOR CAPSULE 2 0.02% ANTERIOR CAPSULE SIGN. UNKNOWN 9 0.11% CAPSULAR PUNCTATE 10 0.09% CAPSULAR INTERMEDIATE 13 0.12% CAPSULAR DIFFUSE 20.02% CAPSULAR SIGN. UNKNOWN 5 0.06% 51 0.45% POSTERIOR CAPSULE 4 0.05% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.02% GENERALIZED CATARACT* 32 0.40% 18 0.16% SUBLUXATION/LUXATION 3 0.04% 4 0.04% VITREOUS PERSISTENT HYALOID ARTERY 9 0.11% 21 0.19% PHPV/PTVL 2 0.02% 14 0.12% DEGENERATION (NO FURTHER SPECIFICATION) 35 0.43% 38 0.34% DEGENERATION ANTERIOR CHAMBER 11 0.10% DEGENERATION SYNERESIS 17 0.15% FUNDUS RETINAL ATROPHY--GENERALIZED 56 0.69% 26 0.23% RETINAL ATROPHY--SUSPICIOUS 33 0.41% 17 0.15% RETINAL DYSPLASIA FOCAL/FOLDS 10 0.12% 42 0.37% RETINAL DYSPLASIA GEOGRAPHIC 3 0.04% 41 0.36% RETINAL DYSPLASIA GENERALIZED/DETACHED 28 0.25% CHOROIDAL HYPOPLASIA 10.01% STAPHYLOMA / COLOBOMA 10.01% RETINAL DETACHMENT 6 0.07% 6 0.05% RETINAL HEMORRHAGE 2 0.02% 3 0.03% OPTIC NERVE COLOBOMA 10.01% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 8 0.10% OPTIC NERVE HYPOPLASIA 30.03% MICROPAPILLA 27 0.24% OTHER OTHER, INHERITED 31 0.38% 27 0.24% OTHER, NON -INHERITED 14 0.17% 280 2.49% NORMAL NORMAL 7333 90.73% 10337 91.93%

NEOPOLITAN MASTIFF

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Macroblepharon Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Distichiasis Not defined 1 Breeder option

E. Persistent pupillary Not defined 1 Breeder option membranes- iris to iris

F. Cataract Not defined 1 NO

Description and Comments

There are no references providing detailed descriptions of hereditary ocular conditions of the Neopolitan mastiff. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

A. Macroblepharon

B. Entropion

C. Ectropion

D. Distichiasis

E. Persistent pupillary membranes (PPM)

F. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Neopolitan mastiff breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

NEAPOLITAN MASTIFF

1991 - 1999 2000-2007 TOTAL NUMBER OF NEAPOLITAN MASTIFF EXAMINED 13 5

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 4 30.77% ECTROPION 4 30.77% 4 80.00% DISTICHIASIS 120.00% EURY/MACRO BLEPHARON 4 30.77% THIRD EYELID GLAND PROLAPSE 1 7.69% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 7.69% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 15.38% POSTERIOR CORTEX DIFFUSE* 1 7.69% EQUATORIAL CORTEX INTERMEDIATE* 1 7.69% EQUATORIAL CORTEX DIFFUSE* 1 7.69% ANTERIOR SUTURES DIFFUSE* 1 7.69% NUCLEUS INTERMEDIATE* 1 7.69% OTHER OTHER, INHERITED 1 7.69% NORMAL NORMAL 4 30.77% 2 40.00%

NEWFOUNDLAND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 3,4 NO

B. Ectropion Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Macroblepharon Not defined 1 Breeder option

E. Prolapsed gland of Not defined 1 Breeder option the third eyelid

F. Persistent pupillary Not defined 3 Breeder option membrane, - iris to iris

G. Iris cysts Not defined 1 Breeder option

H. Cataract Not defined 1 NO

I. Retinal dysplasia Not defines 1,2,3 Breeder option - folds

J. Generalized retinal Not defined 5 NO degeneration

Description and Comments

A. Glaucoma

Some Newfoundlands have an abnormality of the iridocorneal angle termed goniodysgenesis. This abnormality is not visable during routine ophthalmic examination using a slitlamp biomicroscope and an indirect ophthalmoscope. There appears to be an association between goniodysgenesis and glaucoma, but the mechanism by which the angle defect results in glaucoma has not been determined. The inheritance of goniodysgenesis in the Newfoundland is not known. Until the inheritance is determined, control should be directed towards removing dogs from breeding that have glaucoma and have goniodysgenesis, as well as those dogs that produce progeny afflicted with glaucoma.

B. Ectropion

A conformational defect resulting in eversion of the eyelids, which may cause ocular irritation due to exposure. It is likely that ectropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents and the conformation of the skull.

C. Entropion

D. Macroblepharon

Abnormally large eyelid opening; may lead to secondary conditions associated with corneal exposure. In the Newfoundland, ectropion is associated with an exceptionally large palpebral fissure and laxity of the canthal structures. Central lower lid ectropion is often associated with entropion of the adjacent lid. This causes severe ocular irritation.

E. Prolapsed gland of the third eyelid

Protrusion of the tear gland associated with the third eyelid. The mode of inheritance of this disorder is unknown. The exposed gland may become irritated. Commonly referred to as "cherry eye".

F. Persistent pupillary membranes (PPM)

G. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

H. Cataract

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

J. Generalized retinal degeneration

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Newfoundland breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

4. Davidson, MG: Four dogs with goniodysgenesis and glaucoma, Letter to the Editor. Vet Record 148(15):480, 2001.

5. Dekomien G, Epplen JT: Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophy. Molecular vision 9:601-605, 2003.

NEWFOUNDLAND

1991 - 1999 2000-2007 TOTAL NUMBER OF NEWFOUNDLAND EXAMINED 867 1218

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 0.46% 1 0.08% DRY EYE 10.08% EYELIDS ENTROPION 59 6.81% 96 7.88% ECTROPION 44 5.07% 108 8.87% DISTICHIASIS 7 0.81% 5 0.41% EURY/MACRO BLEPHARON 17 1.96% 69 5.67% THIRD EYELID CARTILAGE ANOMALY/EVERSION 11 0.90% GLAND PROLAPSE 5 0.58% 2 0.16% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.08% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.12% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 20.16% UVEA IRIS / CILIARY BODY CYSTS 14 1.61% 14 1.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 0.35% 10 0.82% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.23% 3 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.23% 3 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.08% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 76 8.77% 55 4.52% ANTERIOR CORTEX PUNCTATE* 1 0.12% 4 0.33% ANTERIOR CORTEX INTERMEDIATE* 6 0.69% 7 0.57% ANTERIOR CORTEX DIFFUSE* 5 0.58% 1 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.12% 12 0.99% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 5 0.58% POSTERIOR CORTEX PUNCTATE* 6 0.69% 3 0.25% POSTERIOR CORTEX INTERMEDIATE* 40 4.61% 27 2.22% POSTERIOR CORTEX DIFFUSE* 8 0.92% 5 0.41% POST. CORTEX PUNCT. SIGN. UNKNOWN 6 0.69% 3 0.25% EQUATORIAL CORTEX PUNCTATE* 20.16% EQUATORIAL CORTEX INTERMEDIATE* 5 0.58% 7 0.57% EQUATORIAL CORTEX DIFFUSE* 1 0.12% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.46% 2 0.16% ANTERIOR SUTURES INTERMEDIATE* 2 0.23% 1 0.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.23% 8 0.66% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.12% POSTERIOR SUTURES PUNCTATE* 1 0.12% 2 0.16% POSTERIOR SUTURES INTERMEDIATE* 6 0.69% 5 0.41% POSTERIOR SUTURES DIFFUSE* 1 0.12% 1 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10 0.82% NUCLEUS (SIZE UNSPECIFIED)* 2 0.23% NUCLEUS PUNCTATE* 2 0.23% 1 0.08% NUCLEUS INTERMEDIATE* 4 0.46% 3 0.25%

NEWFOUNDLAND

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 1 0.12% 1 0.08% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.58% 6 0.49% CAPSULAR PUNCTATE 10.08% CAPSULAR INTERMEDIATE 40.33% CAPSULAR DIFFUSE 10.08% CAPSULAR SIGN. UNKNOWN 1 0.12% 11 0.90% POSTERIOR CAPSULE 3 0.35% GENERALIZED CATARACT* 2 0.23% 5 0.41% GENERALIZED SUSPICIOUS 1 0.12% SUBLUXATION/LUXATION 1 0.12% VITREOUS PERSISTENT HYALOID ARTERY 10.08% PHPV/PTVL 20.16% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.23% DEGENERATION ANTERIOR CHAMBER 10.08% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 0.12% RETINAL DYSPLASIA FOCAL/FOLDS 10 1.15% 15 1.23% RETINAL DYSPLASIA GEOGRAPHIC 20.16% RETINAL DETACHMENT 10.08% OPTIC NERVE COLOBOMA 10.08% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 7 0.81% OTHER OTHER, INHERITED 14 1.61% 11 0.90% OTHER, NON -INHERITED 8 0.92% 56 4.60% NORMAL NORMAL 639 73.70% 925 75.94%

NORBOTTENSPETS (NORBOTTENSPLITS)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

Description and Comments

A. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Norbottenspets. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

NORBOTTENSPETS

1991 - 1999 2000-2007 TOTAL NUMBER OF NORBOTTENSPETS EXAMINED 42 36

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 2.38% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 4.76% 3 8.33% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 2.38% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13 30.95% 1 2.78% ANTERIOR CORTEX INTERMEDIATE* 7 16.67% ANT. CORTEX PUNCT. SIGN. UNKNOWN 12.78% POSTERIOR CORTEX PUNCTATE* 2 4.76% POSTERIOR CORTEX INTERMEDIATE* 9 21.43% POSTERIOR CORTEX DIFFUSE* 1 2.38% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 2.38% POSTERIOR SUTURES PUNCTATE* 1 2.38% POSTERIOR SUTURES INTERMEDIATE* 1 2.38% NUCLEUS PUNCTATE* 1 2.38% NUCLEUS INTERMEDIATE* 2 4.76% 1 2.78% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 2.38% CAPSULAR SIGN. UNKNOWN 12.78% FUNDUS RETINAL ATROPHY--GENERALIZED 2 4.76% RETINAL DYSPLASIA FOCAL/FOLDS 1 2.38% OTHER OTHER, NON -INHERITED 38.33% NORMAL NORMAL 26 61.90% 30 83.33%

NORFOLK TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 4 Breeder option - epithelial/stromal

B. Persistent pupillary membranes - iris to iris Not defined 1,2 Breeder option - all other forms Not defined NO

C. Cataract Not defined 1,2 NO

D. Vitreous Not defined 3 Breeder option degeneration - syneresis

E. Retinal atrophy Presumed 1 NO - generalized autosomal recessive

F. Optic nerve Not defined 2 NO coloboma

G. Optic nerve Not defined 2 NO hypoplasia

H. Micropapilla Not defined 2 Breeder option

Description and Comments

A. Corneal Dystrophy - epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

E. Retinal atrophy-generalized

The age of onset has been reported to be between 2 and 3 years of age with initial loss of night vision progressing to complete blindness.

F. Optic nerve coloboma

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

G. Optic nerve hypoplasia

H. Micropapilla

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Norfolk terrier. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

4. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003- 2007.

NORFOLK TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF NORFOLK TERRIER EXAMINED 124 606

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 10.17% EURY/MACRO BLEPHARON 10.17% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.81% 6 0.99% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 9 7.26% 115 18.98% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 2.42% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 3.23% 25 4.13% ANTERIOR CORTEX PUNCTATE* 30.50% ANTERIOR CORTEX INTERMEDIATE* 1 0.81% 5 0.83% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.81% 4 0.66% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.81% POSTERIOR CORTEX PUNCTATE* 30.50% POSTERIOR CORTEX INTERMEDIATE* 1 0.81% 10 1.65% POSTERIOR CORTEX DIFFUSE* 10.17% POST. CORTEX PUNCT. SIGN. UNKNOWN 13 2.15% EQUATORIAL CORTEX INTERMEDIATE* 1 0.81% 1 0.17% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 1.61% 1 0.17% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.81% POSTERIOR SUTURES PUNCTATE* 71.16% POSTERIOR SUTURES INTERMEDIATE* 20.33% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 71.16% NUCLEUS PUNCTATE* 10.17% NUCLEUS DIFFUSE* 10.17% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.33% CAPSULAR PUNCTATE 20.33% CAPSULAR INTERMEDIATE 30.50% CAPSULAR SIGN. UNKNOWN 30.50% GENERALIZED CATARACT* 1 0.81% 1 0.17% VITREOUS PERSISTENT HYALOID ARTERY 1 0.81% 3 0.50% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.61% DEGENERATION SYNERESIS 30.50% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.81% 1 0.17% RETINAL ATROPHY--SUSPICIOUS 2 1.61% 5 0.83% RETINAL DYSPLASIA FOCAL/FOLDS 40.66% RETINAL DYSPLASIA GEOGRAPHIC 10.17% STAPHYLOMA / COLOBOMA 10.17% RETINAL DETACHMENT 10.17% OPTIC NERVE COLOBOMA 1 0.81% 13 2.15% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.81% OPTIC NERVE HYPOPLASIA 14 2.31%

NORFOLK TERRIER

1991 - 1999 2000-2007 MICROPAPILLA 71.16% OTHER OTHER, INHERITED 1 0.81% 5 0.83% OTHER, NON -INHERITED 32 5.28% NORMAL NORMAL 101 81.45% 441 72.77%

NORWEGIAN BUHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Cataract Not defined 1 NO

B. Cataract-pulverulent Presumed 2 Breeders Option autosomal dominant

Description and Comments

A. Cataract

B. Cataract-pulverulent

With the pulverulent cataract in the Norwegian buhund initial lens changes may be visible as early as 6.5 weeks of age as small dots parallel to the suture lines behind the nucleus. By the age of 4 to 5.5 years, the opacities progress to involve the fetal nucleus which then resembles a ball of candy floss. The adult nucleus and the cortex remain clear. An autosomal dominant mode of inheritance with a high degree of penetrance has been suggested.

Cortical cataract with or without the presence of pulverulent cataract have been diagnosed in a few dogs.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Bjerkas E, Haaland MB: Pulverulent nuclear cataract in the Norwegian buhund. J Small Animal Pract 36:471-474, 1995.

NORWEGIAN BUHUND

1991 - 1999 2000-2007 TOTAL NUMBER OF NORWEGIAN BUHUND EXAMINED 139 217

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 10.46% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 31.38% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.46% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 14 10.07% 25 11.52% ANTERIOR CORTEX PUNCTATE* 2 1.44% 1 0.46% ANTERIOR CORTEX INTERMEDIATE* 31.38% ANTERIOR CORTEX DIFFUSE* 1 0.72% 1 0.46% ANT. CORTEX PUNCT. SIGN. UNKNOWN 31.38% POSTERIOR CORTEX PUNCTATE* 2 1.44% 2 0.92% POSTERIOR CORTEX INTERMEDIATE* 4 2.88% 8 3.69% POSTERIOR CORTEX DIFFUSE* 1 0.72% 1 0.46% POSTERIOR CORTEX SUSPICIOUS 1 0.72% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.72% 5 2.30% EQUATORIAL CORTEX DIFFUSE* 1 0.72% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.46% POSTERIOR SUTURES PUNCTATE* 2 1.44% 2 0.92% POSTERIOR SUTURES INTERMEDIATE* 2 1.44% 5 2.30% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.92% NUCLEUS PUNCTATE* 2 1.44% 2 0.92% NUCLEUS INTERMEDIATE* 73.23% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 2.16% 27 12.44% CAPSULAR PUNCTATE 10.46% CAPSULAR SIGN. UNKNOWN 10.46% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.72% RETINAL DYSPLASIA FOCAL/FOLDS 2 1.44% 1 0.46% OTHER OTHER, INHERITED 1 0.72% 6 2.76% OTHER, NON -INHERITED 3 2.16% 10 4.61% NORMAL NORMAL 116 83.45% 153 70.51%

NORWEGIAN ELKHOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Glaucoma Not defined 1-4,14 NO

C. Persistent pupillary membranes - iris to iris Not defined 1,16 Breeder option - all other forms Not defined 16 NO

D. Cataract Not defined 1 NO

E. Retinal atrophy - generalized

1. Rod dysplasia (rd) Presumed 1,5-9 NO autosomal recessive

2. Early retinal Autosomal 1,10-13,15 NO degeneration (erd) recessive

F. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Glaucoma

and classification of glaucoma requires measurement of the IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine screening exam for certification.

In the Norwegian elkhound, glaucoma appears to be familial. In most cases the drainage angle is reported to be open.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Retinal atrophy-generalized

1. Rod dysplasia (rd): Inappropriate development of the visual cells resulting in vision impairment in dim light by 6 months and total blindness at 3-5 years. Ophthalmoscopic signs may be evident after 5 months of age, with signs of retinal vascular thinning after 2 years. An ERG can provide a diagnosis as early as 6 weeks of age. In the Elkhound, this is an autosomal recessive trait.

2. Early retinal degeneration (erd): Another form of PRA reported in the Elkhound, animals are night blind at 6 weeks and blind by 1 year of age. Clinical signs are evident by 6 months. On histopath there is an abnormal structural development of the photoreceptors followed by rapid rod/cone degeneration. As with other forms of PRA, it is suspected to be an autosomal recessive disorder.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Martin CL, Wyman M: Primary glaucoma in the dog. Vet Clin North Amer 8:257, 1978.

3. Slater MR, Erb HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Am Vet Med Assoc 188:1028, 1986.

4. Bjerkas E, Peiffer RL, Ekesten B: Primary glaucoma in the Norwegian elkhound. Proc Am Coll Vet Ophthalmol 25:74, 1994.

5. Ekesten B, Bjerkas E, Kongsengen K, et al: Primary glaucoma in the Norwegian elkhound. Vet Comp Ophthalmol 7:148, 1997.

6. Cogan DG, Kuwabara T: Photoreceptor abiotrophy of the retina in the elkhound. Path Vet 2:101, 1965.

7. Aguirre GD, Rubin LF: Progressive retinal atrophy (rod dysplasia) in the Norwegian elkhound. J Am Vet Med Assoc 158:208, 1970.

8. Aguirre GD, Rubin LF: An electrophysiologic approach for early diagnosis of progressive retinal atrophy in the Norwegian elkhound. J Am Anim Hosp Assoc 7:136, 1971.

9. Aguirre GD, Rubin LF: The early diagnosis of rod dysplasia in the Norwegian elkhound. J Am Vet Med Assoc 159:429, 1971.

10. Acland GM, Aguirre GD: Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res 44:491, 1987.

11. Acland GM, Aguirre GD, Parkes J, Liebman P: A new early onset inherited retinal degeneration in the Norwegian elkhound. Trans Am Coll Vet Ophthalmol 1983, 98.

12. Moghrabi WN, Kedzierski W, Travis GH: Canine homolog and exclusion of retinal degeneration slow (rds) as the gene for early retinal degeneration (erd) in dog. Exp Eye Res 61:641, 1995

13. Ray K, Acland GM, Aguirre GD: Nonallelism of erd and pcrd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci. Invest Ophthalmol Vis Sci 37:783, 1996.

14. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Veterinary Ophthalmology 7 (2):97-111, 2004.

15. Kukekova AV, Aguirre GD, Acland GM. Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd). Gene.2003 Jul 17;312:335-343.

16. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

NORWEGIAN ELKHOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF NORWEGIAN ELKHOUND EXAMINED 1192 738

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.17% 2 0.27% GLAUCOMA 2 0.17% EYELIDS ECTROPION 30.41% DISTICHIASIS 29 2.43% 10 1.36% EURY/MACRO BLEPHARON 1 0.08% 1 0.14% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.08% 3 0.41% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 2 0.17% UVEA IRIS / CILIARY BODY CYSTS 20.27% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 21 1.76% 3 0.41% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.25% 5 0.68% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.25% 1 0.14% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 73 6.12% 27 3.66% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.34% ANTERIOR CORTEX PUNCTATE* 6 0.50% 1 0.14% ANTERIOR CORTEX INTERMEDIATE* 4 0.34% 7 0.95% ANT. CORTEX PUNCT. SIGN. UNKNOWN 9 0.76% 9 1.22% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.34% POSTERIOR CORTEX PUNCTATE* 4 0.34% 1 0.14% POSTERIOR CORTEX INTERMEDIATE* 25 2.10% 8 1.08% POSTERIOR CORTEX DIFFUSE* 2 0.17% 1 0.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 8 0.67% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.17% EQUATORIAL CORTEX PUNCTATE* 3 0.25% EQUATORIAL CORTEX INTERMEDIATE* 12 1.01% 6 0.81% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.08% 5 0.68% ANTERIOR SUTURES PUNCTATE* 10.14% ANTERIOR SUTURES INTERMEDIATE* 1 0.08% 2 0.27% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.42% POSTERIOR SUTURES PUNCTATE* 5 0.42% 2 0.27% POSTERIOR SUTURES INTERMEDIATE* 6 0.50% 1 0.14% POSTERIOR SUTURES DIFFUSE* 10.14% POSTERIOR SUTURES SUSPICIOUS 1 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.17% 6 0.81% NUCLEUS (SIZE UNSPECIFIED)* 4 0.34% NUCLEUS PUNCTATE* 1 0.08% NUCLEUS INTERMEDIATE* 6 0.50% 1 0.14% NUCLEUS PUNCTATE SIGN. UNKNOWN 13 1.09% 6 0.81% ANTERIOR CAPSULE 1 0.08% CAPSULAR PUNCTATE 20.27% CAPSULAR INTERMEDIATE 70.95% CAPSULAR DIFFUSE 10.14%

NORWEGIAN ELKHOUND

1991 - 1999 2000-2007 CAPSULAR SIGN. UNKNOWN 2 0.17% 15 2.03% POSTERIOR CAPSULE 2 0.17% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.17% POSTERIOR CAPSULE SUSPICIOUS 1 0.08% GENERALIZED CATARACT* 2 0.17% SUBLUXATION/LUXATION 3 0.25% VITREOUS PERSISTENT HYALOID ARTERY 3 0.25% 3 0.41% PHPV/PTVL 20.27% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.25% 3 0.41% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.17% RETINAL ATROPHY--SUSPICIOUS 6 0.50% RETINAL DYSPLASIA FOCAL/FOLDS 28 2.35% 4 0.54% RETINAL DYSPLASIA GEOGRAPHIC 2 0.17% RETINAL DETACHMENT 1 0.08% RETINAL HEMORRHAGE 2 0.17% 1 0.14% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.17% OTHER OTHER, INHERITED 9 0.76% 1 0.14% OTHER, NON -INHERITED 2 0.17% 26 3.52% NORMAL NORMAL 985 82.63% 663 89.84%

NORWEGIAN LUNDEHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes - iris to iris Not defined 1 Breeder option

Description and Comments

A. Persistent pupillary membranes (PPM)

References

1. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

NORWEGIAN LUNDEHUND

1991 - 1999 2000-2007 TOTAL NUMBER OF NORWEGIAN LUNDEHUND EXAMINED 14 6

Diagnosic Name Number Percent Number Percent UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 583.33% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 28.57% 2 33.33% ANTERIOR CORTEX INTERMEDIATE* 116.67% ANTERIOR CORTEX DIFFUSE* 2 14.29% POSTERIOR CORTEX DIFFUSE* 1 7.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 7.14% EQUATORIAL CORTEX INTERMEDIATE* 1 7.14% POSTERIOR SUTURES INTERMEDIATE* 116.67% NUCLEUS PUNCTATE SIGN. UNKNOWN 116.67% NORMAL NORMAL 9 64.29% 1 16.67%

NORWICH TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy epithelial/stromal Not defined 1 Breeder option

C. Persistent pupillary Not defined 1 Breeder option membranes- -iris-iris

D. Cataract Not defined 1 NO

E. Vitreous Not defined 1 Breeder option degeneration

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Norwich terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or data from CERF All-Breeds report, 2003-2004.

NORWICH TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF NORWICH TERRIER EXAMINED 335 1077

Diagnosic Name Number Percent Number Percent EYELIDS ECTROPION 10.09% DISTICHIASIS 1 0.30% 7 0.65% EURY/MACRO BLEPHARON 10.09% THIRD EYELID GLAND PROLAPSE 1 0.30% 2 0.19% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 1.19% 7 0.65% DYSTROPHY--ENDOTHELIAL 1 0.30% 1 0.09% UVEA IRIS / CILIARY BODY CYSTS 10.09% IRIS COLOBOMA 10.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 1.49% 59 5.48% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 30.28% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.30% 3 0.28% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.09% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 11 3.28% 30 2.79% ANTERIOR CORTEX PUNCTATE* 10.09% ANTERIOR CORTEX INTERMEDIATE* 1 0.30% 6 0.56% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.30% 6 0.56% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.60% POSTERIOR CORTEX PUNCTATE* 40.37% POSTERIOR CORTEX INTERMEDIATE* 2 0.60% 6 0.56% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.60% 3 0.28% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.30% EQUATORIAL CORTEX PUNCTATE* 20.19% EQUATORIAL CORTEX INTERMEDIATE* 70.65% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.60% 3 0.28% ANTERIOR SUTURES INTERMEDIATE* 10.09% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.60% POSTERIOR SUTURES PUNCTATE* 10.09% POSTERIOR SUTURES INTERMEDIATE* 1 0.30% 3 0.28% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.60% 3 0.28% NUCLEUS (SIZE UNSPECIFIED)* 2 0.60% NUCLEUS PUNCTATE* 20.19% NUCLEUS INTERMEDIATE* 3 0.90% 1 0.09% NUCLEUS DIFFUSE* 20.19% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.30% 1 0.09% CAPSULAR PUNCTATE 10.09% CAPSULAR INTERMEDIATE 10.09% CAPSULAR SIGN. UNKNOWN 20.19% GENERALIZED CATARACT* 3 0.90% 1 0.09% SUBLUXATION/LUXATION 10.09% VITREOUS PERSISTENT HYALOID ARTERY 1 0.30% 1 0.09%

NORWICH TERRIER

1991 - 1999 2000-2007 DEGENERATION (NO FURTHER SPECIFICATION) 40.37% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.90% 2 0.19% RETINAL ATROPHY--SUSPICIOUS 2 0.60% 3 0.28% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.30% 2 0.19% RETINAL DYSPLASIA GEOGRAPHIC 10.09% STAPHYLOMA / COLOBOMA 1 0.30% 1 0.09% OPTIC NERVE COLOBOMA 1 0.30% 1 0.09% OPTIC NERVE HYPOPLASIA 20.19% OTHER OTHER, INHERITED 3 0.90% 2 0.19% OTHER, NON -INHERITED 41 3.81% NORMAL NORMAL 298 88.96% 966 89.69%

NOVA SCOTIA DUCK TOLLING RETRIEVER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option - epithelial/stromal

C. Corneal dystrophy Not defined 3 NO - endothelial

D. Iris cysts Not defined 3 Breeder option

E. Persistent pupillary membranes - iris to iris Not defined 1,5 Breeder option - iris to lens Not defined 5 NO - all other forms Not defined 5 NO

F. Cataract Not defined 1,2 NO

G. Retinal atrophy Autosomal 1,2,7 NO - generalized (prcd) recessive

H. Retinal dysplasia Not defined 3 Breeder option - folds

I. Choroidal hypoplasia Not defined 6,8,9 NO

J. Optic nerve- Not defined 3,4 Breeder option micropapilla

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Corneal dystrophy- endothelial

D. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

E. Persistent pupillary membranes (PPM)

In the Nova Scotia duck tolling retriever, many of the ppm’s identified on routine screening examinations bridge from the iris to the lens where they are associated with focal cataract. This may result in vision impairment.

F. Cataract

G. Retinal atrophy-generalized (prcd)

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

I. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly"

J. Optic nerve- micropapilla

Hypoplasia of the optic nerve is seen in the Nova Scotia Duck Tolling Retriever. In this condition, the optic nerve fails to develop completely. The signs have a variety of expression and degrees of hypoplasia can be found. One or both eyes may be affected. Affected eyes may retain some function or be blind. The mode of inheritance is not clear.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Nova Scotia Duck Tolling Retriever breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Nova Scotia Duck Tolling Retriever Club of Canada, December 1990.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. ACVO Genetics Committee, 2003 and/or Data from CERF All-Breeds Report, 2003.

5. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

6. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

8. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

9. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

NOVA SCOTIA DUCK TOLLING RETRIEVER

1991 - 1999 2000-2007 TOTAL NUMBER OF NOVA SCOTIA DUCK TOLLING RETRIEVER 1279 1859 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 1 0.08% EYELIDS DISTICHIASIS 134 10.48% 254 13.66% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.16% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 36 2.81% 52 2.80% DYSTROPHY--ENDOTHELIAL 2 0.16% UVEA IRIS / CILIARY BODY CYSTS 13 0.70% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 19 1.49% 48 2.58% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 19 1.49% 31 1.67% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.16% 6 0.32% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 42 3.28% 39 2.10% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.16% ANTERIOR CORTEX PUNCTATE* 8 0.63% 1 0.05% ANTERIOR CORTEX INTERMEDIATE* 3 0.23% 9 0.48% ANTERIOR CORTEX DIFFUSE* 10.05% ANTERIOR CORTEX SUSPICIOUS 1 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 14 1.09% 27 1.45% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.31% POSTERIOR CORTEX PUNCTATE* 7 0.55% 11 0.59% POSTERIOR CORTEX INTERMEDIATE* 10 0.78% 11 0.59% POSTERIOR CORTEX DIFFUSE* 10.05% POSTERIOR CORTEX SUSPICIOUS 3 0.23% POST. CORTEX PUNCT. SIGN. UNKNOWN 8 0.63% 10 0.54% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.05% EQUATORIAL CORTEX PUNCTATE* 6 0.47% 1 0.05% EQUATORIAL CORTEX INTERMEDIATE* 3 0.23% 8 0.43% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 5 0.39% 11 0.59% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.11% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.08% POSTERIOR SUTURES PUNCTATE* 2 0.16% POSTERIOR SUTURES INTERMEDIATE* 3 0.23% POSTERIOR SUTURES SUSPICIOUS 1 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 5 0.39% 11 0.59% NUCLEUS (SIZE UNSPECIFIED)* 1 0.08% NUCLEUS PUNCTATE* 2 0.16% 3 0.16% NUCLEUS INTERMEDIATE* 2 0.16% 2 0.11% NUCLEUS DIFFUSE* 1 0.08% 2 0.11% NUCLEUS PUNCTATE SIGN. UNKNOWN 16 1.25% 17 0.91%

NOVA SCOTIA DUCK TOLLING RETRIEVER

1991 - 1999 2000-2007 ANTERIOR CAPSULE 5 0.39% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.23% CAPSULAR PUNCTATE 2 0.16% 3 0.16% CAPSULAR INTERMEDIATE 50.27% CAPSULAR SIGN. UNKNOWN 11 0.86% 31 1.67% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 20.11% POSTERIOR CAPSULE 3 0.23% POSTERIOR CAPSULE SUSPICIOUS 1 0.08% GENERALIZED CATARACT* 10.05% VITREOUS PERSISTENT HYALOID ARTERY 2 0.16% 6 0.32% PHPV/PTVL 3 0.23% 1 0.05% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.08% 4 0.22% DEGENERATION SYNERESIS 20.11% FUNDUS RETINAL ATROPHY--GENERALIZED 16 1.25% 11 0.59% RETINAL ATROPHY--SUSPICIOUS 52 4.07% 11 0.59% RETINAL DYSPLASIA FOCAL/FOLDS 10 0.78% 19 1.02% RETINAL DYSPLASIA GEOGRAPHIC 7 0.55% 2 0.11% CHOROIDAL HYPOPLASIA 20.11% OPTIC NERVE COLOBOMA 20.11% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.31% OPTIC NERVE HYPOPLASIA 40.22% MICROPAPILLA 2 0.16% 2 0.11% OTHER OTHER, INHERITED 5 0.39% 10 0.54% OTHER, NON -INHERITED 16 1.25% 221 11.89% NORMAL NORMAL 917 71.70% 1435 77.19%

OLD ENGLISH SHEEPDOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Not defined 1,2 NO multiple ocular anomalies

B. Distichiasis Not defined 6 Breeder option

C. Corneal dystrophy Not defined 7 Breeder option -epithelial/stromal

D. Persistent pupillary Membranes -iris to iris Not defined 1,7 Breeder option -all other forms Not defined 7 NO

E. Uveodermatologic Not defined 1 NO syndrome

F. Cataract Not defined 1-4 NO

G. Retinal atrophy Not defined 1 NO -generalized

H. Retinal dysplasia Not defined 1 Breeder option -folds

I. Persistent hyperplastic Not defined 5 NO primary vitreous/ persistent hyperplastic tunica vasculosa lentis

J. Coloboma/ Not defined 5 NO Staphyloma

K. Retinal Detachment Not definated 7 NO

L. Optic nerve- Not defined 5 Breeder option micropapilla

Description and Comments

A. Microphthalmia with multiple congenital ocular defects

Microphthalmia is a developmental anomaly in which the eyeball is abnormally small. This is often associated with other ocular malformations, including defects of the cornea, anterior chamber, lens and/or retina.

Microphthalmia with cataract and retinal abnormalities including retinal detachment, has been reported in litters of Old English Sheepdogs. Lesions were non-progressive. However, blindness did result in some dogs. The mode of inheritance is unknown, but affected dogs should not be bred.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Persistent pupillary membrane (PPM)

E. Uveodermatologic syndrome

Uveodermatologic syndrome in the Old English Sheepdog bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune- mediated syndrome of severe uveitis combined with dermal depigmentation (vitiligo) and hair depigmentation (poliosis). Secondary glaucoma and/or retinal detachment are frequent complications of this disease. Affected dogs are generally young ranging in age between 1 1/2-4 years. The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. A similar syndrome is seen in people and is called Vogt-Koyanagi-Harada syndrome (VKH).

F. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. In one study of 66 interrelated Old English sheepdogs, an autosomal recessive mode of inheritance was suggested. Retinal detachment was an associated finding in 5/43 affected dogs in this study. The location of the opacity within the lens and the age of onset was highly variable.

G. Retinal atrophy-generalized

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

I. Persistent hyperplastic primary vitreous (PHPV)/Persistent hyperplastic tunica vasculosa lentis (PHTVL)

J. Coloboma/staphyloma (unassociated with microphthalmia)

K. Retinal Detachment

A separation of the sensory retina from the underlying tissue. It results in blindness when complete.

L. Optic nerve- micropapilla

References

1. ACVO Genetics Committee, 1998 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. Barrie K, et al: Posterior lenticonus, microphthalmia, cataracts and retinal folds in Old English Sheepdogs. J Am Anim Hosp Assoc 15:715, 1979.

3. Koch SA: Cataracts in interrelated Old English sheepdogs. J Am Vet Med Assoc 160:299, 1972.

4. Koch SA: Cataracts in the Old English Sheepdog: A preliminary report. J Am Anim Hosp Assoc 8:61, 1972.

5. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

6. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

OLD ENGLISH SHEEPDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF OLD ENGLISH SHEEPDOG EXAMINED 1825 1614

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 8 0.44% 1 0.06% GLAUCOMA 4 0.22% EYELIDS ENTROPION 7 0.38% 4 0.25% ECTROPION 1 0.05% 1 0.06% DISTICHIASIS 27 1.48% 18 1.12% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.05% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.11% 6 0.37% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 110 6.03% 143 8.86% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.11% 4 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.16% 4 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.11% 7 0.43% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 108 5.92% 57 3.53% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 13 0.71% ANTERIOR CORTEX PUNCTATE* 8 0.44% 14 0.87% ANTERIOR CORTEX INTERMEDIATE* 21 1.15% 16 0.99% ANTERIOR CORTEX DIFFUSE* 12 0.66% 1 0.06% ANTERIOR CORTEX SUSPICIOUS 1 0.05% ANT. CORTEX PUNCT. SIGN. UNKNOWN 44 2.41% 53 3.28% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.44% POSTERIOR CORTEX PUNCTATE* 2 0.11% 5 0.31% POSTERIOR CORTEX INTERMEDIATE* 21 1.15% 15 0.93% POSTERIOR CORTEX DIFFUSE* 13 0.71% 2 0.12% POST. CORTEX PUNCT. SIGN. UNKNOWN 7 0.38% 9 0.56% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.05% EQUATORIAL CORTEX PUNCTATE* 1 0.05% 3 0.19% EQUATORIAL CORTEX INTERMEDIATE* 6 0.33% 3 0.19% EQUATORIAL CORTEX DIFFUSE* 6 0.33% 1 0.06% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.11% 4 0.25% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.06% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.11% ANTERIOR SUTURES PUNCTATE* 4 0.22% ANTERIOR SUTURES INTERMEDIATE* 2 0.11% 3 0.19% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.22% 4 0.25% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.05% POSTERIOR SUTURES PUNCTATE* 2 0.11% 1 0.06% POSTERIOR SUTURES INTERMEDIATE* 4 0.22% 7 0.43% POSTERIOR SUTURES SUSPICIOUS 1 0.05% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.11% 2 0.12%

OLD ENGLISH SHEEPDOG

1991 - 1999 2000-2007 NUCLEUS (SIZE UNSPECIFIED)* 6 0.33% NUCLEUS PUNCTATE* 8 0.44% 2 0.12% NUCLEUS INTERMEDIATE* 16 0.88% 10 0.62% NUCLEUS DIFFUSE* 1 0.05% 1 0.06% NUCLEUS SUSPICIOUS 1 0.05% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.27% 8 0.50% ANTERIOR CAPSULE 2 0.11% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.05% ANTERIOR CAPSULE SUSPICIOUS 1 0.05% CAPSULAR PUNCTATE 2 0.11% 3 0.19% CAPSULAR INTERMEDIATE 1 0.05% 2 0.12% CAPSULAR SIGN. UNKNOWN 4 0.22% 27 1.67% POSTERIOR CAPSULE 1 0.05% POSTERIOR CAPSULE SIGN. UNKNOWN 8 0.44% GENERALIZED CATARACT* 11 0.60% 5 0.31% SUBLUXATION/LUXATION 4 0.22% 2 0.12% VITREOUS PERSISTENT HYALOID ARTERY 10 0.55% 6 0.37% PHPV/PTVL 20.12% DEGENERATION (NO FURTHER SPECIFICATION) 6 0.33% 5 0.31% DEGENERATION SYNERESIS 30.19% FUNDUS RETINAL ATROPHY--GENERALIZED 5 0.27% 1 0.06% RETINAL ATROPHY--SUSPICIOUS 2 0.11% 1 0.06% RETINAL DYSPLASIA FOCAL/FOLDS 32 1.75% 31 1.92% RETINAL DYSPLASIA GEOGRAPHIC 5 0.27% CHOROIDAL HYPOPLASIA 1 0.05% STAPHYLOMA / COLOBOMA 10.06% RETINAL DETACHMENT 4 0.22% 5 0.31% RETINAL HEMORRHAGE 1 0.05% OPTIC NERVE COLOBOMA 2 0.11% 1 0.06% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 7 0.38% OPTIC NERVE HYPOPLASIA 80.50% MICROPAPILLA 1 0.05% 7 0.43% OTHER OTHER, INHERITED 8 0.44% 11 0.68% OTHER, NON -INHERITED 3 0.16% 65 4.03% NORMAL NORMAL 1448 79.34% 1313 81.35%

PAPILLON

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 5,6 Breeder option

B. Corneal dystrophy Not defined 7 Breeder option - epithelial/stromal

C. Persistent pupillary membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

D. Cataract Not defined 1 NO

E. Vitreous Not defined 1 Breeder option degeneration

F. Retinal atrophy Presumed 1,2 NO - generalized autosomal recessive

G. Optic nerve- Not defined 4 Breeder option micropapilla

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

Nuclear and posterior cortical cataracts have been reported in the Papillon.

E. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

F. Retinal atrophy-generalized

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as progressive retinal atrophy or PRA, may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. In one study of 707 dogs in Sweden an autosomal recessive mode of inheritance was suggested. Clinical onset is reported at 5-6 years of age.

G. Optic nerve- micropapilla

Hypoplasia of the optic nerve is seen in the papillon. In this condition, the optic nerve fails to develop completely. The signs have a variety of expression and degrees of hypoplasia can be found. One or both eyes may be affected. Affected eyes may retain some function or be blind. The mode of inheritance is not clear.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Papillon breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Haakanson N, Narfstrom K: Progressive retinal atrophy in papillon dogs in Sweden: A clinical survey. Prog Vet Comp Ophthalmol 5:83, 1995.

3. Narfstrom K, Ekesten B: Electroretinographic evaluation of papillons with and without hereditary retinal degeneration. Am J Vet Res 59:221, 1998.

4. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

5. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

7. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

PAPILLON

1991 - 1999 2000-2007 TOTAL NUMBER OF PAPILLON EXAMINED 3446 3837

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 3 0.09% 4 0.10% GLAUCOMA 1 0.03% EYELIDS ENTROPION 5 0.15% 5 0.13% DISTICHIASIS 39 1.13% 61 1.59% THIRD EYELID GLAND PROLAPSE 3 0.09% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 28 0.81% 38 0.99% DYSTROPHY--ENDOTHELIAL 1 0.03% 2 0.05% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.09% 2 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.03% UVEA IRIS / CILIARY BODY CYSTS 1 0.03% 3 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 51 1.48% 100 2.61% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 4 0.12% 3 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.12% 3 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 4 0.12% 2 0.05% ENDOTHELIAL PIGMENT/NO PPM 10.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 109 3.16% 94 2.45% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 6 0.17% ANTERIOR CORTEX PUNCTATE* 19 0.55% 17 0.44% ANTERIOR CORTEX INTERMEDIATE* 32 0.93% 30 0.78% ANTERIOR CORTEX DIFFUSE* 3 0.09% 2 0.05% ANTERIOR CORTEX SUSPICIOUS 5 0.15% ANT. CORTEX PUNCT. SIGN. UNKNOWN 62 1.80% 61 1.59% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.12% POSTERIOR CORTEX PUNCTATE* 7 0.20% 8 0.21% POSTERIOR CORTEX INTERMEDIATE* 22 0.64% 20 0.52% POSTERIOR CORTEX DIFFUSE* 3 0.09% 4 0.10% POSTERIOR CORTEX SUSPICIOUS 1 0.03% POST. CORTEX PUNCT. SIGN. UNKNOWN 12 0.35% 8 0.21% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.06% EQUATORIAL CORTEX PUNCTATE* 4 0.12% 5 0.13% EQUATORIAL CORTEX INTERMEDIATE* 11 0.32% 13 0.34% EQUATORIAL CORTEX DIFFUSE* 1 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 7 0.20% 6 0.16% ANTERIOR SUTURES PUNCTATE* 3 0.09% 1 0.03% ANTERIOR SUTURES INTERMEDIATE* 2 0.06% 4 0.10% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 5 0.15% 6 0.16% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.03%

PAPILLON

1991 - 1999 2000-2007 POSTERIOR SUTURES PUNCTATE* 4 0.12% 3 0.08% POSTERIOR SUTURES INTERMEDIATE* 4 0.12% 6 0.16% POSTERIOR SUTURES DIFFUSE* 10.03% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 0.17% 14 0.36% NUCLEUS (SIZE UNSPECIFIED)* 1 0.03% NUCLEUS PUNCTATE* 5 0.15% 4 0.10% NUCLEUS INTERMEDIATE* 7 0.20% 8 0.21% NUCLEUS DIFFUSE* 7 0.20% 3 0.08% NUCLEUS SUSPICIOUS 1 0.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.15% 8 0.21% ANTERIOR CAPSULE SUSPICIOUS 1 0.03% CAPSULAR PUNCTATE 1 0.03% 5 0.13% CAPSULAR INTERMEDIATE 50.13% CAPSULAR DIFFUSE 20.05% CAPSULAR SIGN. UNKNOWN 1 0.03% 19 0.50% POSTERIOR CAPSULE 2 0.06% POSTERIOR CAPSULE SUSPICIOUS 2 0.06% GENERALIZED CATARACT* 8 0.23% 5 0.13% SUBLUXATION/LUXATION 1 0.03% 3 0.08% VITREOUS PERSISTENT HYALOID ARTERY 13 0.38% 16 0.42% PHPV/PTVL 5 0.15% 6 0.16% DEGENERATION (NO FURTHER SPECIFICATION) 78 2.26% 89 2.32% DEGENERATION ANTERIOR CHAMBER 13 0.34% DEGENERATION SYNERESIS 26 0.68% FUNDUS RETINAL ATROPHY--GENERALIZED 20 0.58% 9 0.23% RETINAL ATROPHY--SUSPICIOUS 29 0.84% 31 0.81% RETINAL DYSPLASIA FOCAL/FOLDS 24 0.70% 17 0.44% RETINAL DYSPLASIA GEOGRAPHIC 60.16% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.03% 1 0.03% STAPHYLOMA / COLOBOMA 2 0.06% RETINAL DETACHMENT 3 0.09% 2 0.05% RETINAL HEMORRHAGE 1 0.03% OPTIC NERVE COLOBOMA 3 0.09% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 6 0.17% 1 0.03% OPTIC NERVE HYPOPLASIA 30.08% MICROPAPILLA 60.16% OTHER OTHER, INHERITED 11 0.32% 11 0.29% OTHER, NON -INHERITED 16 0.46% 159 4.14% NORMAL NORMAL 2985 86.62% 3346 87.20%

PARSON RUSSELL TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary Not defined 1 Breeder option membranes - iris to iris

C. Cataract Not defined 1 NO

D. Vitreous Not defined 2 Breeder option degeneration

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Parson Russell terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

2. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

PARSON RUSSELL TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF PARSON RUSSELL TERRIER EXAMINED 2 1348

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 31 2.30% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 80.59% DYSTROPHY--ENDOTHELIAL 20.15% UVEA IRIS / CILIARY BODY CYSTS 20.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 50.00% 54 4.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.07% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.07% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 51 3.78% ANTERIOR CORTEX PUNCTATE* 60.45% ANTERIOR CORTEX INTERMEDIATE* 90.67% ANTERIOR CORTEX DIFFUSE* 10.07% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10 0.74% POSTERIOR CORTEX PUNCTATE* 60.45% POSTERIOR CORTEX INTERMEDIATE* 24 1.78% POSTERIOR CORTEX DIFFUSE* 10.07% POST. CORTEX PUNCT. SIGN. UNKNOWN 40.30% EQUATORIAL CORTEX INTERMEDIATE* 50.37% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.07% POSTERIOR SUTURES PUNCTATE* 20.15% POSTERIOR SUTURES INTERMEDIATE* 10 0.74% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10 0.74% NUCLEUS INTERMEDIATE* 10.07% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.15% CAPSULAR INTERMEDIATE 40.30% CAPSULAR DIFFUSE 10.07% CAPSULAR SIGN. UNKNOWN 30.22% SUBLUXATION/LUXATION 10.07% VITREOUS PERSISTENT HYALOID ARTERY 40.30% PHPV/PTVL 10.07% DEGENERATION (NO FURTHER SPECIFICATION) 50.37% DEGENERATION ANTERIOR CHAMBER 10.07% DEGENERATION SYNERESIS 30.22% FUNDUS RETINAL ATROPHY--GENERALIZED 40.30% RETINAL ATROPHY--SUSPICIOUS 80.59% RETINAL DYSPLASIA FOCAL/FOLDS 20.15% STAPHYLOMA / COLOBOMA 10.07% RETINAL DETACHMENT 10.07% OPTIC NERVE HYPOPLASIA 10.07% MICROPAPILLA 20.15%

PARSON RUSSELL TERRIER

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 20.15% OTHER, NON -INHERITED 81 6.01% NORMAL NORMAL 1 50.00% 1215 90.13%

PEKINGESE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1-3 Breeder option

B. Ectopic cilia Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Exposure keratopathy Not defined 1 Breeder option syndrome/ macroblepharon

E. Keratoconjunctivitis Not defined 1 NO sicca (dry eye)

F. Cataract Not defined 1 NO

G. Retinal atrophy Not defined 1,4 NO -generalized

Description and Comments

A. Distichiasis

B. Ectopic cilia

Aberrant hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs. They may cause discomfort and corneal disease.

C. Entropion

D. Exposure keratopathy syndrome/macroblepharon

A corneal disease involving all or part of the cornea, resulting from inadequate blinking. This results from a combination of anatomic features including shallow orbits, exophthalmos, macroblepharon and lagophthalmos. Macroblepharon is defined as an exceptionally large palpebral fissure, macroblepharon in conjunction with laxity of the lateral canthal structures may lead to lower lid ectropion and upper lid entropion. Either of these conditions may lead to severe ocular irritation.

E. Keratoconjunctivitis sicca (dry eye)

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

F. Cataract

G. Retinal atrophy-generalized

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Pekingese breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Barnett KC: Comparative aspects of canine hereditary eye disease. Adv Vet Sci Comp Med 20:39, 1976.

3. Gelatt KN: Pediatric ophthalmology in small animal practice. Vet Clin North Amer 3:321,1973.

4. Priester WA: Canine progressive retinal atrophy: Occurrence by age, breed and sex. Am J Vet Res 35:571, 1974.

PEKINGESE

1991 - 1999 2000-2007 TOTAL NUMBER OF PEKINGESE EXAMINED 99 32

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 7 7.07% 2 6.25% ECTROPION 13.13% DISTICHIASIS 10 10.10% 4 12.50% ECTOPIC CILIA 2 2.02% EURY/MACRO BLEPHARON 11 11.11% 1 3.13% CORNEA CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 5 5.05% 2 6.25% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 15 15.15% 3 9.38% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 8 8.08% 5 15.63% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.01% ANTERIOR CORTEX PUNCTATE* 13.13% ANTERIOR CORTEX INTERMEDIATE* 3 3.03% 2 6.25% ANTERIOR CORTEX SUSPICIOUS 1 1.01% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.01% POSTERIOR CORTEX PUNCTATE* 13.13% POSTERIOR CORTEX INTERMEDIATE* 2 2.02% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 1.01% EQUATORIAL CORTEX INTERMEDIATE* 2 2.02% POSTERIOR SUTURES PUNCTATE* 13.13% POSTERIOR SUTURES INTERMEDIATE* 13.13% NUCLEUS INTERMEDIATE* 1 1.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.01% GENERALIZED CATARACT* 1 1.01% SUBLUXATION/LUXATION 2 2.02% FUNDUS RETINAL ATROPHY--SUSPICIOUS 1 1.01% RETINAL DYSPLASIA GENERALIZED/DETACHED 13.13% OTHER OTHER, INHERITED 4 4.04% OTHER, NON -INHERITED 2 2.02% 7 21.88% NORMAL NORMAL 53 53.54% 17 53.13%

PEMBROKE WELSH CORGI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary membranes iris to iris Not defined 2 Breeder option all other forms Not defined 1,2 NO

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 1 Breeder option -folds

E. Retinal dysplasia Not defined 1 NO -geographic/ detached

It is recommended that this breed be examined prior to pharmacological dilation to best facilitate identification of persistent pupillary membrane in this breed.

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

Persistent pupillary membranes are a significant problem in this breed with frequent documentation of strands bridging from the iris to the cornea noted on routine screening eye examinations. These may be associated with corneal opacity which may result in vision impairment thus the recommendation against breeding Pembroke Welsh corgi’s with ppm.

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

E. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

References

There are no specific references providing detailed descriptions of hereditary ocular conditions of the Pembroke Welsh Corgi. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

PEMBROKE WELSH CORGI

1991 - 1999 2000-2007 TOTAL NUMBER OF PEMBROKE WELSH CORGI EXAMINED 6851 6887

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 9 0.13% 4 0.06% DRY EYE 1 0.01% GLAUCOMA 1 0.01% EYELIDS ECTROPION 1 0.01% DISTICHIASIS 144 2.10% 112 1.63% ECTOPIC CILIA 2 0.03% 1 0.01% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.01% GLAND PROLAPSE 2 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 21 0.31% 23 0.33% DYSTROPHY--ENDOTHELIAL 38 0.55% 14 0.20% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 30.04% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.01% UVEA IRIS / CILIARY BODY CYSTS 2 0.03% 5 0.07% IRIS COLOBOMA 4 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1037 15.14% 1271 18.46% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 31 0.45% 21 0.30% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 202 2.95% 134 1.95% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.07% 10 0.15% ENDOTHELIAL PIGMENT/NO PPM 20.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 286 4.17% 222 3.22% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 12 0.18% ANTERIOR CORTEX PUNCTATE* 25 0.36% 13 0.19% ANTERIOR CORTEX INTERMEDIATE* 40 0.58% 32 0.46% ANTERIOR CORTEX DIFFUSE* 1 0.01% 5 0.07% ANTERIOR CORTEX SUSPICIOUS 3 0.04% ANT. CORTEX PUNCT. SIGN. UNKNOWN 44 0.64% 35 0.51% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 18 0.26% POSTERIOR CORTEX PUNCTATE* 19 0.28% 16 0.23% POSTERIOR CORTEX INTERMEDIATE* 71 1.04% 67 0.97% POSTERIOR CORTEX DIFFUSE* 5 0.07% 11 0.16% POSTERIOR CORTEX SUSPICIOUS 6 0.09% POST. CORTEX PUNCT. SIGN. UNKNOWN 14 0.20% 14 0.20% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 10 0.15% EQUATORIAL CORTEX PUNCTATE* 8 0.12% 12 0.17% EQUATORIAL CORTEX INTERMEDIATE* 28 0.41% 23 0.33% EQUATORIAL CORTEX DIFFUSE* 1 0.01% 1 0.01% EQUATORIAL CORTEX SUSPICIOUS 2 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 13 0.19% 16 0.23% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.03% ANTERIOR SUTURES PUNCTATE* 20.03%

PEMBROKE WELSH CORGI

1991 - 1999 2000-2007 ANTERIOR SUTURES INTERMEDIATE* 2 0.03% 1 0.01% ANTERIOR SUTURES DIFFUSE* 1 0.01% 1 0.01% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 0.09% 6 0.09% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.06% POSTERIOR SUTURES PUNCTATE* 5 0.07% 6 0.09% POSTERIOR SUTURES INTERMEDIATE* 5 0.07% 7 0.10% POSTERIOR SUTURES DIFFUSE* 1 0.01% 1 0.01% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.04% 6 0.09% POSTERIOR SUTURES INTERMEDIATE SIGN. UNKNOWN 10.01% NUCLEUS (SIZE UNSPECIFIED)* 19 0.28% NUCLEUS PUNCTATE* 18 0.26% 17 0.25% NUCLEUS INTERMEDIATE* 75 1.09% 69 1.00% NUCLEUS DIFFUSE* 8 0.12% 9 0.13% NUCLEUS SUSPICIOUS 6 0.09% NUCLEUS PUNCTATE SIGN. UNKNOWN 49 0.72% 38 0.55% ANTERIOR CAPSULE 6 0.09% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.04% CAPSULAR PUNCTATE 15 0.22% CAPSULAR INTERMEDIATE 11 0.16% CAPSULAR DIFFUSE 20.03% CAPSULAR SIGN. UNKNOWN 4 0.06% 27 0.39% POSTERIOR CAPSULE 8 0.12% POSTERIOR CAPSULE SIGN. UNKNOWN 8 0.12% GENERALIZED CATARACT* 11 0.16% 5 0.07% SUBLUXATION/LUXATION 3 0.04% 2 0.03% VITREOUS PERSISTENT HYALOID ARTERY 22 0.32% 32 0.46% PHPV/PTVL 4 0.06% 7 0.10% DEGENERATION (NO FURTHER SPECIFICATION) 14 0.20% 22 0.32% DEGENERATION SYNERESIS 10 0.15% FUNDUS RETINAL ATROPHY--GENERALIZED 10.01% RETINAL ATROPHY--SUSPICIOUS 13 0.19% 10 0.15% RETINAL DYSPLASIA FOCAL/FOLDS 516 7.53% 369 5.36% RETINAL DYSPLASIA GEOGRAPHIC 88 1.28% 63 0.91% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.03% 1 0.01% CHOROIDAL HYPOPLASIA 20.03% RETINAL DETACHMENT 2 0.03% RETINAL HEMORRHAGE 4 0.06% 3 0.04% OPTIC NERVE COLOBOMA 1 0.01% 1 0.01% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 0.07% OPTIC NERVE HYPOPLASIA 10.01% MICROPAPILLA 40.06% OTHER OTHER, INHERITED 69 1.01% 30 0.44% OTHER, NON -INHERITED 28 0.41% 239 3.47% NORMAL NORMAL 4682 68.34% 5158 74.89%

PETIT BASSET GRIFFON VENDEEN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 2 NO

B. Corneal dystrophy Not defined 4 Breeder option - epithelial/stromal

C. Corneal dystrophy Not defined 1 Breeder option - endothelial

D. Persistent pupillary membranes - iris to iris Not defined 1,4,6 Breeder option - iris to lens Not defined 5 NO - iris to cornea Not defined 5,6 NO - all other forms Not defined 4 NO

E. Cataract Not defined 1 NO

F. Lens luxation Not defined 3 NO

G. Vitreous Not defined 4 Breeder option degeneration

H. Retinal dysplasia Not defined 1 Breeder option - folds

Description and Comments

A. Glaucoma

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Corneal dystrophy-endothelial

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Lens Luxation

G. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are few references providing detailed descriptions of hereditary conditions of the Basset Griffon Vendeen, Petite breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. Chaudidu, G., Clerc, B., et al: Primary Lens Luxation in the Petite Bassett Griffon Vendeen in France. ECVO Proceedings 2002.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

6. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

PETIT BASSET GRIFFON VENDEEN

1991 - 1999 2000-2007 TOTAL NUMBER OF PETIT BASSET GRIFFON VENDEEN 602 1005 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 20.20% EYELIDS ENTROPION 3 0.50% DISTICHIASIS 3 0.50% 5 0.50% THIRD EYELID GLAND PROLAPSE 1 0.17% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 0.83% 7 0.70% DYSTROPHY--ENDOTHELIAL 12 1.99% 7 0.70% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.10% UVEA IRIS / CILIARY BODY CYSTS 20.20% IRIS COLOBOMA 1 0.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 108 17.94% 216 21.49% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.50% 20 1.99% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 58 9.63% 112 11.14% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 14 2.33% 1 0.10% ENDOTHELIAL PIGMENT/NO PPM 10.10% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 17 2.82% 34 3.38% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.17% ANTERIOR CORTEX PUNCTATE* 6 1.00% 8 0.80% ANTERIOR CORTEX INTERMEDIATE* 6 1.00% 8 0.80% ANTERIOR CORTEX DIFFUSE* 20.20% ANT. CORTEX PUNCT. SIGN. UNKNOWN 8 1.33% 11 1.09% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.10% POSTERIOR CORTEX PUNCTATE* 2 0.33% 2 0.20% POSTERIOR CORTEX INTERMEDIATE* 1 0.17% 4 0.40% POSTERIOR CORTEX DIFFUSE* 1 0.17% 2 0.20% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.17% 3 0.30% EQUATORIAL CORTEX PUNCTATE* 1 0.17% EQUATORIAL CORTEX INTERMEDIATE* 2 0.33% 3 0.30% EQUATORIAL CORTEX DIFFUSE* 10.10% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.10% ANTERIOR SUTURES PUNCTATE* 30.30% ANTERIOR SUTURES DIFFUSE* 10.10% POSTERIOR SUTURES PUNCTATE* 30.30% POSTERIOR SUTURES INTERMEDIATE* 40.40% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.66% 10 1.00% NUCLEUS PUNCTATE* 1 0.17% 1 0.10% NUCLEUS INTERMEDIATE* 20.20% NUCLEUS DIFFUSE* 10.10% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.17% 1 0.10% ANTERIOR CAPSULE 1 0.17%

PETIT BASSET GRIFFON VENDEEN

1991 - 1999 2000-2007 CAPSULAR PUNCTATE 3 0.50% 9 0.90% CAPSULAR INTERMEDIATE 70.70% CAPSULAR SIGN. UNKNOWN 3 0.50% 21 2.09% GENERALIZED CATARACT* 30.30% SUBLUXATION/LUXATION 3 0.50% 5 0.50% VITREOUS PERSISTENT HYALOID ARTERY 3 0.50% 1 0.10% DEGENERATION (NO FURTHER SPECIFICATION) 6 1.00% 3 0.30% FUNDUS RETINAL ATROPHY--GENERALIZED 10.10% RETINAL DYSPLASIA FOCAL/FOLDS 51 8.47% 33 3.28% RETINAL DYSPLASIA GEOGRAPHIC 5 0.83% 2 0.20% RETINAL HEMORRHAGE 2 0.33% OPTIC NERVE COLOBOMA 1 0.17% MICROPAPILLA 2 0.33% 1 0.10% OTHER OTHER, INHERITED 8 1.33% 28 2.79% OTHER, NON -INHERITED 2 0.33% 64 6.37% NORMAL NORMAL 355 58.97% 661 65.77%

PHARAOH HOUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 3 Breeder option

B. Persistent pupillary Not defined 3,4 Breeder option membranes - iris to iris

C. Cataract Not defined 1 NO

D. Retinal dysplasia Not defined 2 Breeder option - folds

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Pharaoh Hound breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

4. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

PHARAOH HOUND

1991 - 1999 2000-2007 TOTAL NUMBER OF PHARAOH HOUND EXAMINED 86 112

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 2 2.33% 4 3.57% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 3.49% 5 4.46% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 1.16% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 76.25% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 1.16% 2 1.79% POSTERIOR CORTEX INTERMEDIATE* 10.89% POSTERIOR CORTEX DIFFUSE* 10.89% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.89% EQUATORIAL CORTEX INTERMEDIATE* 21.79% POSTERIOR SUTURES INTERMEDIATE* 32.68% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 1.16% 1 0.89% ANTERIOR CAPSULE 1 1.16% CAPSULAR SIGN. UNKNOWN 32.68% FUNDUS RETINAL ATROPHY--GENERALIZED 10.89% RETINAL ATROPHY--SUSPICIOUS 21.79% RETINAL DYSPLASIA FOCAL/FOLDS 21.79% RETINAL DYSPLASIA GEOGRAPHIC 10.89% OTHER OTHER, NON -INHERITED 1 1.16% 5 4.46% NORMAL NORMAL 77 89.53% 91 81.25%

POINTER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 2 Breeder option epithelial/stromal

B. Persistent pupillary Not defined 2 Breeder option membranes- iris to iris

C. Cataract Not defined 1 NO

D. Retinal dysplasia Presumed 1 NO - folds autosomal recessive

Description and Comments

A. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Pointer breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

POINTER

1991 - 1999 2000-2007 TOTAL NUMBER OF POINTER EXAMINED 231 188

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 0.43% 1 0.53% ECTROPION 1 0.43% DISTICHIASIS 2 0.87% 1 0.53% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.87% 2 1.06% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.43% 1 0.53% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.43% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.53% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 4 1.73% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.87% 3 1.60% POSTERIOR CORTEX INTERMEDIATE* 2 0.87% EQUATORIAL CORTEX PUNCTATE* 1 0.43% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.53% POSTERIOR SUTURES INTERMEDIATE* 1 0.43% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.53% NUCLEUS PUNCTATE* 1 0.43% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.43% 1 0.53% VITREOUS PERSISTENT HYALOID ARTERY 10.53% FUNDUS RETINAL ATROPHY--SUSPICIOUS 10.53% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.87% 2 1.06% RETINAL DYSPLASIA GEOGRAPHIC 31.60% MICROPAPILLA 10.53% OTHER OTHER, INHERITED 1 0.43% OTHER, NON -INHERITED 52.66% NORMAL NORMAL 214 92.64% 174 92.55%

POLISH LOWLAND SHEEPDOG (Polski Owczarek Nizinny)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4-6 Breeder option

B. Corneal dystrophy Not defined 4-6 Breeder option -epithelial/stromal

C. Corneal dystrophy Not defined 3 NO -endothelial

D. Persistent pupillary membranes iris to iris Not defined 1,6 Breeder option all other forms Not defined 6 NO

E. Cataract Not defined 3 NO

F. Central progressive Not defined 3 NO retinal atrophy

G. Ceroid lipofuscinosis Not defined 2,5 NO

Description and Comments

A. Distichiasis

B. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

C. Corneal dystrophy- endothelial

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Central progressive retinal atrophy (CPRA)

In the Nizzinis, retinal lesions of CPRA have been related to an underlying abnormal metabolism of Vitamin E resulting in a systemic deficiency.

G. Ceroid lipofuscinosis

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Narfstrom K, Wrigstad A, et al: Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs. Vet Ophthalmol 10:111-120, 2007.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

5. Brahm R, Matiasek K: Neuronal ceroid lipofuscinosis in two closely related Tibetan Terriers and one Polish Owczarek Nizinny (PON) dog: clinical, ophthalmologic and bioptical findings. Abstract #28. Vet Ophthalmol 7:430, 2004.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

POLISH LOWLAND SHEEPDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF POLISH LOWLAND SHEEPDOG EXAMINED 243 464

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 5 2.06% 5 1.08% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 2.06% 15 3.23% DYSTROPHY--ENDOTHELIAL 10.22% UVEA IRIS / CILIARY BODY CYSTS 10.22% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 12 4.94% 32 6.90% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 6 2.47% 5 1.08% ANTERIOR CORTEX PUNCTATE* 20.43% ANTERIOR CORTEX INTERMEDIATE* 1 0.41% 2 0.43% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 0.82% 10 2.16% POSTERIOR CORTEX PUNCTATE* 4 1.65% 2 0.43% POSTERIOR CORTEX INTERMEDIATE* 1 0.41% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.82% 1 0.22% EQUATORIAL CORTEX PUNCTATE* 10.22% EQUATORIAL CORTEX INTERMEDIATE* 10.22% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.41% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.43% POSTERIOR SUTURES PUNCTATE* 1 0.41% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.22% NUCLEUS PUNCTATE SIGN. UNKNOWN 20.43% CAPSULAR PUNCTATE 10.22% CAPSULAR SIGN. UNKNOWN 4 1.65% 2 0.43% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 10.22% FUNDUS RETINAL ATROPHY--GENERALIZED 30.65% RETINAL ATROPHY--SUSPICIOUS 1 0.41% 6 1.29% RETINAL DYSPLASIA FOCAL/FOLDS 4 1.65% 4 0.86% OTHER OTHER, NON -INHERITED 1 0.41% 20 4.31% NORMAL NORMAL 203 83.54% 401 86.42%

POMERANIAN

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1,3 Breeder option

B. Entropion Not defined 1 Breeder option

C. Persistent pupillary Not defined 5 Breeder option membranes- -iris to iris

D. Cataract Not defined 2 NO

E. Vitreous Not defined 4 Breeder option degeneration

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. Selection should be directed against entropion and toward head conformation that minimizes or eliminates the likelihood of the defect.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Pomeranian breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

POMERANIAN

1991 - 1999 2000-2007 TOTAL NUMBER OF POMERANIAN EXAMINED 155 291

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 1.29% DRY EYE 1 0.65% EYELIDS DISTICHIASIS 8 5.16% 17 5.84% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.65% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 3 1.94% DYSTROPHY--ENDOTHELIAL 10.34% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.65% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 6 3.87% 13 4.47% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 1.29% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.65% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 6.45% 9 3.09% ANTERIOR CORTEX PUNCTATE* 20.69% ANTERIOR CORTEX INTERMEDIATE* 2 1.29% 3 1.03% ANTERIOR CORTEX DIFFUSE* 1 0.65% ANT. CORTEX PUNCT. SIGN. UNKNOWN 41.37% POSTERIOR CORTEX PUNCTATE* 1 0.65% 1 0.34% POSTERIOR CORTEX INTERMEDIATE* 1 0.65% 3 1.03% POSTERIOR CORTEX DIFFUSE* 2 1.29% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.65% 2 0.69% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.65% EQUATORIAL CORTEX PUNCTATE* 10.34% EQUATORIAL CORTEX INTERMEDIATE* 1 0.65% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.34% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.34% POSTERIOR SUTURES PUNCTATE* 2 1.29% NUCLEUS INTERMEDIATE* 2 1.29% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.65% CAPSULAR PUNCTATE 10.34% CAPSULAR SIGN. UNKNOWN 10.34% GENERALIZED CATARACT* 2 1.29% VITREOUS PERSISTENT HYALOID ARTERY 2 1.29% 1 0.34% PHPV/PTVL 10.34% DEGENERATION (NO FURTHER SPECIFICATION) 31.03% FUNDUS RETINAL ATROPHY--GENERALIZED 3 1.94% 5 1.72% RETINAL ATROPHY--SUSPICIOUS 3 1.94% 4 1.37% RETINAL DYSPLASIA FOCAL/FOLDS 2 1.29% RETINAL DYSPLASIA GEOGRAPHIC 1 0.65%

POMERANIAN

1991 - 1999 2000-2007 RETINAL DETACHMENT 1 0.65% 1 0.34% RETINAL HEMORRHAGE 10.34% OPTIC NERVE COLOBOMA 2 1.29% OTHER OTHER, INHERITED 2 1.29% 3 1.03% OTHER, NON -INHERITED 19 6.53% NORMAL NORMAL 115 74.19% 244 83.85%

POODLE (Toy, Miniature, and Standard)

All varieties of the Poodle are basically the same genetic makeup, having their size governed by differences in an "insulin-like growth factor". (See Reference 2)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1 NO

B. Distichiasis Not defined 1 Breeder option

C. Imperforate Not defined 1 Breeder option lacrimal puncta

D. Corneal degeneration Not defined 27 Breeder option (poodle, toy)

E. Persistent pupillary membranes - iris to iris Not defined 1,30 Breeder option - all other forms Not defined 30 NO

F. Glaucoma Not defined 1,3,28,29 NO

G. Cataract Not defined 1,4,25 NO

H. Vitreous degeneration Not defined 1 Breeder option

I. Retinal atrophy Autosomal 1,5-23,31 NO - generalized (prcd) recessive

J. Optic nerve Not defined 1,24,26 NO hypoplasia

K. Optic nerve- Not defined 1 Breeder option micropapilla

Description and Comments

A. Microphthalmia

Microphthalmia is a developmental anomaly in which the eyeball is abnormally small. This is often associated with other ocular malformations, including defects in the cornea, anterior chamber, lens and/or retina. It can be found in one or both eyes.

B. Distichiasis

C. Imperforate lacrimal punctum

A developmental abnormality resulting in failure of opening of the lacrimal duct adjacent to the eye. The lower punctum is more frequently affected. This defect usually results in epiphora, an overflow of tears onto the face.

D. Corneal Degeneration

Degeneration or cell death in one or more of the layers of the cornea which may be spontaneous or secondary to other ocular conditions.

E. Persistent pupillary membranes (PPM)

F. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

The poodle form is usually a narrow angle variety and often associated with a condition of goniodysgenesis (a condition of incomplete formation and development of the iridocorneal angle).

G. Cataract

The poodle cataract can involve the lens cortex and lens nucleus. The rate and degree of progression are variable. A familial form of cataract has been described in the standard poodle, beginning with an equatorial opacity initially observed in dogs prior to 2 years of age.

H. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

I. Retinal atrophy-generalized (prcd)

A degenerative disease of the retinal visual cells which progresses to blindness. This abnormality, also known as progressive retinal atrophy or PRA, may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. In an ERG study of PRA in miniature poodles in southern France, a possible correlation with coat color was noted with black and gray poodles affected more often than apricot and white poodles.

Progressive rod/cone degeneration is the term used for the entity described as PRA in the poodle. It may be detected ophthalmoscopically as early as 3 years of age; however, some animals may be detected earlier. Diagnostic electroretinography (ERG) is usually required in younger animals to detect signs of retinal rod/cone cell failure before signs can be seen ophthalmoscopically. The mode of inheritance is considered to be autosomal recessive.

For DNA testing of miniature, toy, and dwarf poodles contact Optigen®: prcd-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com.

J. Optic nerve hypoplasia

Micropapilla refers to a small optic disc which is not associated with vision impairment. Optic nerve hypoplasia refers to a congenital defect of the optic nerve which causes blindness and abnormal pupil response in the affected eye. May be difficult to differentiate between micropapilla and optic nerve hypoplasia on a routine (dilated) screening ophthalmoscopic exam.

K. Optic nerve - micropapilla

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Eigenmann JE et al: Body size parallels insulin-like growth factor I levels but not growth hormone secretory capacity. ACTA Endocrinol 106:448, 1984.

3. Slater, MR; Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Amer Vet Med Assoc. 188:1028, 1986.

4. Rubin LF, Flowers RD: Inherited cataract in a family of standard poodles. J Am Vet Med Assoc 161:207, 1972.

5. Barnett KC: Hereditary retinal atrophy in the poodle. Vet Rec 74:672, 1962.

6. Barnett KC: Canine retinopathies. II. The miniature and toy poodle. J Small Anim Pract 6:93, 1965

7. Barnett KC: Two forms of hereditary and progressive retinal atrophy in the dog. I. The miniature poodle. II. The Labrador retriever. J Am Anim Hosp Assoc 1:234, 1965.

8. Aguirre GD, Rubin LF: Progressive retinal atrophy in the miniature poodle: an electrophysiologic study. J Am Vet Med Assoc 160:191, 1972.

9. Aguirre GD: Inherited retinal degeneration in the dog. Trans Acad Ophth Otol 81:667, 1976.

10. Aguirre GD et al: Hereditary retinal degeneration in the dog: Specificity of abnormal cyclic nucleotide metabolism to diseases of arrested photoreceptor development. Birth Defects 18:119, 1982.

11. Aguirre GD et al: Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci 23:610, 1982.

12. Parkes J et al: Progressive rod-cone degeneration in the dog: Characterization of the visual pigment. Invest Ophthalmol Vis Sci 23:674, 1982.

13. Pawlyk KBS, Sandberg MA, Berson EL: Temporal aspects of the electroretinogram of miniature poodles with progressive retinal atrophy. Invest Ophthalmol Vis Sci 25:196, 1984.

14. Aguirre G, O'Brien P: Morphological and biochemical studies of canine progressive rod-cone degeneration. Invest Ophthalmol Vis Sci 27:635, 1986.

15. Sandberg MA, Pawlyk BS, Berson EL: Full field electroretinograms in miniature poodles with progressive rod-cone degeneration. Invest Ophthalmol Vis Sci 19, 1179, 1986.

16. Aguirre G, Acland G: Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res 46:663, 1988.

17. Wetzel MG, et al: Fatty acid metabolism in normal miniature poodles and those affected with progressive rot-cone degeneration. In LaVail MM, Anderson RE and Hoolyfield JG (eds): Inherited and Environmentally Induced Retinal Degenerations. Prog Clin Biol Res 314:427, 1989.

18. Anderson RE, et al: Plasma levels of docosahexaenoic acid in miniature poodles with an inherited retinal degeneration. Invest Ophthalmol Vis Sci (Suppl):169, 1988.

19. Alvarez RA, Aguirre GD, Acland GM, et al: Docosapentaenoic acid is converted to docosahexaenoic acid in the retinas of normal and prcd-affected miniature poodle dogs. Invest Ophthalmol Vis Sci 35:402, 1994.

20. Kemp CM, Jacobson SG: Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration. Exp Eye Res 54:947, 1992.

21. Gaiddon J, Lallemeal PE, Peiffer RL: Positive correlation between coat color and electroretinographically diagnosed progressive retinal atrophy in miniature poodles in southern France. Prog Vet Comp Ophthalmol 5:74, 1995.

22. Wang GM, Acland GM, Aguirre GD, et al: Exclusion of rhodopsin and probable exclusion of rds/peripherin as candidates for canine progressive rod-cone degeneration. Invest Ophthalmol Vis Sci (Suppl) 36:3570, 1995.

23. Ray K, Acland GM, Aguirre GD: Nonallelism of erd and prcd exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci. Invest Ophthalmol Vis Sci 37:783, 1996.

24. Kern TJ, Riis RC: Optic nerve hypoplasia in three miniature poodles. J Am Vet Med Assoc 178:49, 1981.

25. Barnett KC, Startup FG: Hereditary cataract in the Standard poodle. Vet Rec 117:15, 1985.

26. Vestre WA, Brightman AH: Congenital blindness due to optic nerve hypoplasia. Canine practice 7:45, 1980.

27. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

28. Gelatt KN, MacKay EO: Prevalence of the breed-related glaucomas in pure-bred dogs in North America. Vet Ophthalmol 7:2, 2004.

29. Secondary glaucomas in the dog in North America. Vet Ophthalmol 7, 2004.

30. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

31. Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, et al: Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006.

POODLE (STANDARD, MINIATURE, TOY)

1991 - 1999 2000-2007 TOTAL NUMBER OF POODLE (STANDARD, MINIATURE, TOY) 428 1014 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.23% 1 0.10% EYELIDS ENTROPION 1 0.23% 1 0.10% DISTICHIASIS 31 7.24% 40 3.94% ECTOPIC CILIA 1 0.23% THIRD EYELID CARTILAGE ANOMALY/EVERSION 20.20% GLAND PROLAPSE 20.20% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 2 0.47% 6 0.59% DYSTROPHY--ENDOTHELIAL 10.10% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.10% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.23% UVEA IRIS COLOBOMA 1 0.23% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11 2.57% 41 4.04% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.47% 6 0.59% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 0.47% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.23% 4 0.39% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 31 7.24% 58 5.72% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.47% ANTERIOR CORTEX PUNCTATE* 5 1.17% 6 0.59% ANTERIOR CORTEX INTERMEDIATE* 9 2.10% 18 1.78% ANTERIOR CORTEX DIFFUSE* 3 0.70% 4 0.39% ANT. CORTEX PUNCT. SIGN. UNKNOWN 9 2.10% 27 2.66% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.23% POSTERIOR CORTEX PUNCTATE* 1 0.23% 1 0.10% POSTERIOR CORTEX INTERMEDIATE* 9 2.10% 16 1.58% POSTERIOR CORTEX DIFFUSE* 3 0.70% 3 0.30% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.23% 2 0.20% EQUATORIAL CORTEX PUNCTATE* 3 0.70% 3 0.30% EQUATORIAL CORTEX INTERMEDIATE* 2 0.47% 10 0.99% EQUATORIAL CORTEX DIFFUSE* 1 0.23% 1 0.10% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.23% 5 0.49% ANTERIOR SUTURES PUNCTATE* 1 0.23% 1 0.10% ANTERIOR SUTURES INTERMEDIATE* 1 0.23% 1 0.10% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 1.40% 5 0.49% POSTERIOR SUTURES PUNCTATE* 20.20% POSTERIOR SUTURES INTERMEDIATE* 50.49% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.70% 4 0.39% NUCLEUS PUNCTATE* 1 0.23% 1 0.10% NUCLEUS INTERMEDIATE* 1 0.23% NUCLEUS DIFFUSE* 1 0.23% 1 0.10%

POODLE (STANDARD, MINIATURE, TOY)

1991 - 1999 2000-2007 NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.23% 6 0.59% CAPSULAR PUNCTATE 20.20% CAPSULAR INTERMEDIATE 10.10% CAPSULAR DIFFUSE 10.10% CAPSULAR SIGN. UNKNOWN 4 0.93% 11 1.08% POSTERIOR CAPSULE 1 0.23% GENERALIZED CATARACT* 4 0.93% 13 1.28% SUBLUXATION/LUXATION 3 0.70% VITREOUS PERSISTENT HYALOID ARTERY 2 0.47% 2 0.20% PHPV/PTVL 1 0.23% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.47% 6 0.59% FUNDUS RETINAL ATROPHY--GENERALIZED 6 1.40% 6 0.59% RETINAL ATROPHY--SUSPICIOUS 1 0.23% 15 1.48% RETINAL DYSPLASIA FOCAL/FOLDS 20.20% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.10% STAPHYLOMA / COLOBOMA 10.10% RETINAL DETACHMENT 10.10% OPTIC NERVE COLOBOMA 1 0.23% 3 0.30% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.47% OPTIC NERVE HYPOPLASIA 10.10% MICROPAPILLA 2 0.47% 4 0.39% OTHER OTHER, INHERITED 3 0.70% 4 0.39% OTHER, NON -INHERITED 2 0.47% 41 4.04% NORMAL NORMAL 319 74.53% 788 77.71%

POODLE, MINIATURE

1991 - 1999 2000-2007 TOTAL NUMBER OF POODLE, MINIATURE EXAMINED 5328 3859

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.02% 2 0.05% GLAUCOMA 3 0.06% 1 0.03% EYELIDS ENTROPION 6 0.11% 7 0.18% ECTROPION 10.03% DISTICHIASIS 641 12.03% 361 9.35% ECTOPIC CILIA 3 0.06% 4 0.10% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 27 0.51% 11 0.29% DYSTROPHY--ENDOTHELIAL 3 0.06% DERMOID 1 0.02% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 8 0.15% 2 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 3 0.06% 2 0.05% UVEA IRIS / CILIARY BODY CYSTS 10.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 160 3.00% 213 5.52% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 14 0.26% 9 0.23% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 4 0.08% 7 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 8 0.15% 2 0.05% ENDOTHELIAL PIGMENT/NO PPM 10.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 300 5.63% 116 3.01% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 45 0.84% ANTERIOR CORTEX PUNCTATE* 38 0.71% 22 0.57% ANTERIOR CORTEX INTERMEDIATE* 55 1.03% 23 0.60% ANTERIOR CORTEX DIFFUSE* 21 0.39% 7 0.18% ANTERIOR CORTEX SUSPICIOUS 6 0.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 78 1.46% 84 2.18% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 40 0.75% POSTERIOR CORTEX PUNCTATE* 22 0.41% 12 0.31% POSTERIOR CORTEX INTERMEDIATE* 54 1.01% 33 0.86% POSTERIOR CORTEX DIFFUSE* 23 0.43% 6 0.16% POSTERIOR CORTEX SUSPICIOUS 3 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 24 0.45% 25 0.65% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 12 0.23% EQUATORIAL CORTEX PUNCTATE* 9 0.17% 5 0.13% EQUATORIAL CORTEX INTERMEDIATE* 20 0.38% 12 0.31% EQUATORIAL CORTEX DIFFUSE* 3 0.06% 5 0.13% EQUATORIAL CORTEX SUSPICIOUS 2 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 24 0.45% 14 0.36% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.04% ANTERIOR SUTURES PUNCTATE* 2 0.04% 1 0.03% ANTERIOR SUTURES INTERMEDIATE* 6 0.11% 3 0.08% ANTERIOR SUTURES SUSPICIOUS 1 0.02%

POODLE, MINIATURE

1991 - 1999 2000-2007 ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 8 0.15% 7 0.18% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.09% POSTERIOR SUTURES PUNCTATE* 14 0.26% 10 0.26% POSTERIOR SUTURES INTERMEDIATE* 10 0.19% 6 0.16% POSTERIOR SUTURES DIFFUSE* 3 0.06% POSTERIOR SUTURES SUSPICIOUS 3 0.06% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 16 0.30% 39 1.01% NUCLEUS (SIZE UNSPECIFIED)* 3 0.06% NUCLEUS PUNCTATE* 2 0.04% 2 0.05% NUCLEUS INTERMEDIATE* 5 0.09% 1 0.03% NUCLEUS DIFFUSE* 7 0.13% 3 0.08% NUCLEUS PUNCTATE SIGN. UNKNOWN 12 0.23% 1 0.03% ANTERIOR CAPSULE 7 0.13% ANTERIOR CAPSULE SIGN. UNKNOWN 11 0.21% ANTERIOR CAPSULE SUSPICIOUS 2 0.04% CAPSULAR PUNCTATE 2 0.04% 2 0.05% CAPSULAR INTERMEDIATE 1 0.02% 3 0.08% CAPSULAR DIFFUSE 10.03% CAPSULAR SIGN. UNKNOWN 4 0.08% 34 0.88% POSTERIOR CAPSULE 10 0.19% POSTERIOR CAPSULE SIGN. UNKNOWN 5 0.09% POSTERIOR CAPSULE SUSPICIOUS 4 0.08% GENERALIZED CATARACT* 32 0.60% 9 0.23% GENERALIZED SIGNIFICANTS UNKNOWN 4 0.08% SUBLUXATION/LUXATION 4 0.08% 3 0.08% VITREOUS PERSISTENT HYALOID ARTERY 14 0.26% 7 0.18% PHPV/PTVL 1 0.02% DEGENERATION (NO FURTHER SPECIFICATION) 17 0.32% 15 0.39% DEGENERATION ANTERIOR CHAMBER 20.05% DEGENERATION SYNERESIS 30.08% FUNDUS RETINAL ATROPHY--GENERALIZED 69 1.30% 30 0.78% RETINAL ATROPHY--CENTRAL 1 0.02% RETINAL ATROPHY--SUSPICIOUS 43 0.81% 34 0.88% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.08% 8 0.21% RETINAL DYSPLASIA GEOGRAPHIC 10.03% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.03% CHOROIDAL HYPOPLASIA 10.03% STAPHYLOMA / COLOBOMA 3 0.06% RETINAL DETACHMENT 3 0.06% 1 0.03% RETINAL HEMORRHAGE 1 0.02% OPTIC NERVE COLOBOMA 18 0.34% 9 0.23% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 90 1.69% 3 0.08% OPTIC NERVE HYPOPLASIA 32 0.83% MICROPAPILLA 5 0.09% 43 1.11% OTHER OTHER, INHERITED 38 0.71% 14 0.36% OTHER, NON -INHERITED 16 0.30% 155 4.02%

POODLE, MINIATURE

1991 - 1999 2000-2007 NORMAL NORMAL 3933 73.82% 2989 77.46%

POODLE, STANDARD

1991 - 1999 2000-2007 TOTAL NUMBER OF POODLE, STANDARD EXAMINED 7225 8155

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 3 0.04% 4 0.05% DRY EYE 10.01% GLAUCOMA 1 0.01% EYELIDS ENTROPION 31 0.43% 36 0.44% ECTROPION 1 0.01% 2 0.02% DISTICHIASIS 169 2.34% 104 1.28% ECTOPIC CILIA 1 0.01% 3 0.04% THIRD EYELID CARTILAGE ANOMALY/EVERSION 12 0.17% 6 0.07% GLAND PROLAPSE 10.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 49 0.68% 51 0.63% DYSTROPHY--ENDOTHELIAL 30.04% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 4 0.06% 5 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 40.05% UVEA IRIS / CILIARY BODY CYSTS 1 0.01% 2 0.02% IRIS COLOBOMA 20.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 79 1.09% 154 1.89% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 9 0.12% 7 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.04% 8 0.10% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.07% 10 0.12% ENDOTHELIAL PIGMENT/NO PPM 20.02% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 349 4.83% 286 3.51% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 41 0.57% ANTERIOR CORTEX PUNCTATE* 81 1.12% 79 0.97% ANTERIOR CORTEX INTERMEDIATE* 60 0.83% 77 0.94% ANTERIOR CORTEX DIFFUSE* 11 0.15% 7 0.09% ANTERIOR CORTEX SUSPICIOUS 13 0.18% ANT. CORTEX PUNCT. SIGN. UNKNOWN 213 2.95% 327 4.01% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.24% POSTERIOR CORTEX PUNCTATE* 25 0.35% 27 0.33% POSTERIOR CORTEX INTERMEDIATE* 49 0.68% 50 0.61% POSTERIOR CORTEX DIFFUSE* 12 0.17% 6 0.07% POSTERIOR CORTEX SUSPICIOUS 4 0.06% POST. CORTEX PUNCT. SIGN. UNKNOWN 23 0.32% 53 0.65% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.01% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 13 0.18% EQUATORIAL CORTEX PUNCTATE* 27 0.37% 20 0.25% EQUATORIAL CORTEX INTERMEDIATE* 49 0.68% 62 0.76% EQUATORIAL CORTEX DIFFUSE* 2 0.03% 3 0.04% EQUATORIAL CORTEX SUSPICIOUS 1 0.01% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 42 0.58% 56 0.69%

POODLE, STANDARD

1991 - 1999 2000-2007 ANTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.07% ANTERIOR SUTURES PUNCTATE* 8 0.11% 10 0.12% ANTERIOR SUTURES INTERMEDIATE* 7 0.10% 5 0.06% ANTERIOR SUTURES DIFFUSE* 10.01% ANTERIOR SUTURES SUSPICIOUS 6 0.08% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 33 0.46% 63 0.77% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 10 0.14% POSTERIOR SUTURES PUNCTATE* 14 0.19% 14 0.17% POSTERIOR SUTURES INTERMEDIATE* 9 0.12% 17 0.21% POSTERIOR SUTURES DIFFUSE* 10.01% POSTERIOR SUTURES SUSPICIOUS 6 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30 0.42% 50 0.61% NUCLEUS (SIZE UNSPECIFIED)* 6 0.08% NUCLEUS PUNCTATE* 5 0.07% 10 0.12% NUCLEUS INTERMEDIATE* 17 0.24% 14 0.17% NUCLEUS DIFFUSE* 11 0.15% 1 0.01% NUCLEUS SUSPICIOUS 2 0.03% NUCLEUS PUNCTATE SIGN. UNKNOWN 10 0.14% 19 0.23% ANTERIOR CAPSULE 7 0.10% ANTERIOR CAPSULE SIGN. UNKNOWN 11 0.15% ANTERIOR CAPSULE SUSPICIOUS 4 0.06% CAPSULAR PUNCTATE 14 0.17% CAPSULAR INTERMEDIATE 1 0.01% 10 0.12% CAPSULAR SIGN. UNKNOWN 8 0.11% 79 0.97% POSTERIOR CAPSULE 7 0.10% POSTERIOR CAPSULE SIGN. UNKNOWN 6 0.08% POSTERIOR CAPSULE SUSPICIOUS 5 0.07% GENERALIZED CATARACT* 40 0.55% 8 0.10% GENERALIZED SUSPICIOUS 2 0.03% SUBLUXATION/LUXATION 4 0.06% 4 0.05% VITREOUS PERSISTENT HYALOID ARTERY 10 0.14% 11 0.13% PHPV/PTVL 6 0.08% 1 0.01% DEGENERATION (NO FURTHER SPECIFICATION) 18 0.25% 8 0.10% DEGENERATION ANTERIOR CHAMBER 20.02% DEGENERATION SYNERESIS 60.07% FUNDUS RETINAL ATROPHY--GENERALIZED 31 0.43% 10 0.12% RETINAL ATROPHY--CENTRAL 1 0.01% RETINAL ATROPHY--SUSPICIOUS 28 0.39% 12 0.15% RETINAL DYSPLASIA FOCAL/FOLDS 31 0.43% 27 0.33% RETINAL DYSPLASIA GEOGRAPHIC 1 0.01% 8 0.10% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.01% STAPHYLOMA / COLOBOMA 2 0.03% RETINAL DETACHMENT 3 0.04% 3 0.04% OPTIC NERVE COLOBOMA 2 0.03% 2 0.02% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 21 0.29% OPTIC NERVE HYPOPLASIA 10.01% MICROPAPILLA 3 0.04% 18 0.22%

POODLE, STANDARD

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 47 0.65% 19 0.23% OTHER, NON -INHERITED 38 0.53% 388 4.76% NORMAL NORMAL 6074 84.07% 7164 87.85%

POODLE, TOY

1991 - 1999 2000-2007 TOTAL NUMBER OF POODLE, TOY EXAMINED 5485 2855

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.04% 1 0.04% DRY EYE 30.11% EYELIDS ENTROPION 3 0.05% 2 0.07% DISTICHIASIS 626 11.41% 338 11.84% ECTOPIC CILIA 9 0.16% 3 0.11% THIRD EYELID GLAND PROLAPSE 30.11% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 2 0.04% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 35 0.64% 13 0.46% DYSTROPHY--ENDOTHELIAL 1 0.02% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 12 0.22% 7 0.25% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.04% 7 0.25% UVEA IRIS COLOBOMA 1 0.02% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.04% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 113 2.06% 120 4.20% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 5 0.09% 5 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.04% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.09% 3 0.11% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 326 5.94% 120 4.20% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 55 1.00% ANTERIOR CORTEX PUNCTATE* 44 0.80% 17 0.60% ANTERIOR CORTEX INTERMEDIATE* 99 1.80% 37 1.30% ANTERIOR CORTEX DIFFUSE* 18 0.33% 7 0.25% ANTERIOR CORTEX SUSPICIOUS 9 0.16% ANT. CORTEX PUNCT. SIGN. UNKNOWN 81 1.48% 39 1.37% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 36 0.66% POSTERIOR CORTEX PUNCTATE* 26 0.47% 12 0.42% POSTERIOR CORTEX INTERMEDIATE* 67 1.22% 30 1.05% POSTERIOR CORTEX DIFFUSE* 18 0.33% 6 0.21% POSTERIOR CORTEX SUSPICIOUS 4 0.07% POST. CORTEX PUNCT. SIGN. UNKNOWN 12 0.22% 8 0.28% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 13 0.24% EQUATORIAL CORTEX PUNCTATE* 4 0.07% 3 0.11% EQUATORIAL CORTEX INTERMEDIATE* 29 0.53% 13 0.46% EQUATORIAL CORTEX DIFFUSE* 5 0.09% 1 0.04% EQUATORIAL CORTEX SUSPICIOUS 1 0.02% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 8 0.15% 5 0.18% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.07% ANTERIOR SUTURES PUNCTATE* 6 0.11% 3 0.11% ANTERIOR SUTURES INTERMEDIATE* 5 0.09% 4 0.14%

POODLE, TOY

1991 - 1999 2000-2007 ANTERIOR SUTURES DIFFUSE* 2 0.04% 1 0.04% ANTERIOR SUTURES SUSPICIOUS 1 0.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.07% 3 0.11% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.07% POSTERIOR SUTURES PUNCTATE* 4 0.07% 4 0.14% POSTERIOR SUTURES INTERMEDIATE* 10 0.18% 10 0.35% POSTERIOR SUTURES DIFFUSE* 1 0.02% 4 0.14% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.07% 9 0.32% NUCLEUS (SIZE UNSPECIFIED)* 2 0.04% NUCLEUS PUNCTATE* 3 0.05% 2 0.07% NUCLEUS INTERMEDIATE* 5 0.09% 4 0.14% NUCLEUS DIFFUSE* 3 0.05% NUCLEUS SUSPICIOUS 2 0.04% NUCLEUS PUNCTATE SIGN. UNKNOWN 7 0.13% 5 0.18% ANTERIOR CAPSULE 5 0.09% ANTERIOR CAPSULE SIGN. UNKNOWN 10 0.18% ANTERIOR CAPSULE SUSPICIOUS 3 0.05% CAPSULAR PUNCTATE 30.11% CAPSULAR INTERMEDIATE 40.14% CAPSULAR SIGN. UNKNOWN 5 0.09% 7 0.25% POSTERIOR CAPSULE 10 0.18% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.04% POSTERIOR CAPSULE SUSPICIOUS 3 0.05% GENERALIZED CATARACT* 39 0.71% 16 0.56% GENERALIZED SUSPICIOUS 2 0.04% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.02% SUBLUXATION/LUXATION 2 0.04% 2 0.07% VITREOUS PERSISTENT HYALOID ARTERY 7 0.13% 4 0.14% PHPV/PTVL 1 0.02% 2 0.07% DEGENERATION (NO FURTHER SPECIFICATION) 56 1.02% 47 1.65% DEGENERATION ANTERIOR CHAMBER 50.18% DEGENERATION SYNERESIS 11 0.39% FUNDUS RETINAL ATROPHY--GENERALIZED 76 1.39% 33 1.16% RETINAL ATROPHY--CENTRAL 2 0.04% RETINAL ATROPHY--SUSPICIOUS 78 1.42% 35 1.23% RETINAL DYSPLASIA FOCAL/FOLDS 6 0.11% 3 0.11% RETINAL DYSPLASIA GEOGRAPHIC 1 0.02% 1 0.04% RETINAL DYSPLASIA GENERALIZED/DETACHED 3 0.05% 2 0.07% CHOROIDAL HYPOPLASIA 1 0.02% STAPHYLOMA / COLOBOMA 3 0.05% 2 0.07% RETINAL DETACHMENT 7 0.13% 7 0.25% RETINAL HEMORRHAGE 2 0.04% OPTIC NERVE COLOBOMA 7 0.13% 4 0.14% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 20 0.36% OPTIC NERVE HYPOPLASIA 40.14% MICROPAPILLA 10.04%

POODLE, TOY

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 39 0.71% 28 0.98% OTHER, NON -INHERITED 17 0.31% 106 3.71% NORMAL NORMAL 4170 76.03% 2165 75.83%

PORTUGUESE WATER DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Not defined 1,2 NO multiple ocular defects

B. Distichiasis Not defined 1 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 1,6 Breeder option - all other forms Not defined 6 NO

D. Cataract Not defined 1 NO

E. Retinal atrophy Autosomal 1,3-5,7 NO - generalized (prcd) recessive

F. Retinal dysplasia Not defined 6 Breeder option - folds

Description and Comments

A. Microphthalmia with multiple congenital ocular defects

This is a congenital abnormality present bilaterally and characterized by a small globe and associated ocular defects which can affect the cornea, anterior chamber, lens and/or retina. These associated defects may be variable in severity. Several cases have been identified, all of which appeared to have a common ancestry. All affected animals so far identified have been the progeny of dogs that were phenotypically normal, suggesting that the defect is not dominantly inherited.

B. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

C. Persistent pupillary membranes

D. Cataract

E. Retinal atrophy-generalized (prcd)

The disease in the Portuguese Water Dog has not been characterized sufficiently to establish a disease frequency, the disease mechanism, or the age when early diagnosis by ophthalmoscopy and/or electroretinography is possible. In most affected dogs to date, the disease is recognized clinically in dogs 3-5 years of age or older; this suggests that the disease represents one of the late-onset forms of PRA. This photoreceptor degeneration is characterized by slow death of visual cells following their normal development. The disease begins clinically with signs of night blindness followed by day blindness.

Studies have shown that PRA in the Portuguese water dog is inherited as autosomal recessive. The mutation is allelic to that present in miniature poodles ,Labrador retriever, English and American cocker spaniels and others. The locus is termed the progressive rod-cone degeneration (prcd) gene. A mutation test is now available. Contact: For testing: Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257-0301. E-mail: [email protected] : website: www.optigen.com

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. Case records (1986-1994), Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania.

3. Riis RC, Loew E: Ocular lesions in Portuguese water dogs known to be homozygous for progressive retinal atrophy. Proc Amer Coll Vet Ophthalmol 24:39, 1993.

4. Acland G, Ray K, Aguirre G: Genetic tests for PRA in Portuguese Water Dogs and for Congenital Stationary Night Blindness in Briards. Proc American College of Veterinary Ophthalmologists 28:63, 1998.

5. Aguirre G, Acland G: Use and misuse of electroretinography in the diagnosis of inherited retinal diseases of dogs. Proceedings American College of Veterinary Ophthalmologists 27:37, 1997.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

PORTUGUESE WATER DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF PORTUGUESE WATER DOG EXAMINED 8302 9067

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 9 0.11% 2 0.02% DRY EYE 2 0.02% 1 0.01% GLAUCOMA 5 0.06% EYELIDS ENTROPION 14 0.17% 8 0.09% ECTROPION 10.01% DISTICHIASIS 228 2.75% 302 3.33% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 54 0.65% 49 0.54% DYSTROPHY--ENDOTHELIAL 1 0.01% 1 0.01% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.04% 1 0.01% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 30.03% UVEA IRIS / CILIARY BODY CYSTS 1 0.01% 5 0.06% IRIS COLOBOMA 1 0.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 282 3.40% 518 5.71% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 13 0.16% 11 0.12% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 12 0.14% 14 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 8 0.10% 34 0.37% ENDOTHELIAL PIGMENT/NO PPM 10.01% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 162 1.95% 177 1.95% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 32 0.39% ANTERIOR CORTEX PUNCTATE* 30 0.36% 41 0.45% ANTERIOR CORTEX INTERMEDIATE* 29 0.35% 32 0.35% ANTERIOR CORTEX DIFFUSE* 5 0.06% 3 0.03% ANTERIOR CORTEX SUSPICIOUS 1 0.01% ANT. CORTEX PUNCT. SIGN. UNKNOWN 232 2.79% 341 3.76% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 11 0.13% POSTERIOR CORTEX PUNCTATE* 17 0.20% 22 0.24% POSTERIOR CORTEX INTERMEDIATE* 14 0.17% 44 0.49% POSTERIOR CORTEX DIFFUSE* 3 0.04% 2 0.02% POST. CORTEX PUNCT. SIGN. UNKNOWN 37 0.45% 62 0.68% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 8 0.10% EQUATORIAL CORTEX PUNCTATE* 17 0.20% 19 0.21% EQUATORIAL CORTEX INTERMEDIATE* 19 0.23% 31 0.34% EQUATORIAL CORTEX DIFFUSE* 4 0.05% 3 0.03% EQUATORIAL CORTEX SUSPICIOUS 3 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 44 0.53% 61 0.67% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.05% ANTERIOR SUTURES PUNCTATE* 10 0.11% ANTERIOR SUTURES INTERMEDIATE* 2 0.02% 3 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 26 0.31% 33 0.36% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.05% POSTERIOR SUTURES PUNCTATE* 3 0.04% 8 0.09%

PORTUGUESE WATER DOG

1991 - 1999 2000-2007 POSTERIOR SUTURES INTERMEDIATE* 3 0.04% 6 0.07% POSTERIOR SUTURES DIFFUSE* 1 0.01% POSTERIOR SUTURES SUSPICIOUS 2 0.02% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11 0.13% 45 0.50% NUCLEUS (SIZE UNSPECIFIED)* 5 0.06% NUCLEUS PUNCTATE* 3 0.04% 4 0.04% NUCLEUS INTERMEDIATE* 3 0.04% 7 0.08% NUCLEUS DIFFUSE* 2 0.02% 3 0.03% NUCLEUS SUSPICIOUS 1 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 15 0.18% 15 0.17% ANTERIOR CAPSULE 3 0.04% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.04% CAPSULAR PUNCTATE 2 0.02% 14 0.15% CAPSULAR INTERMEDIATE 1 0.01% 11 0.12% CAPSULAR SIGN. UNKNOWN 11 0.13% 64 0.71% POSTERIOR CAPSULE 2 0.02% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.02% GENERALIZED CATARACT* 12 0.14% 13 0.14% GENERALIZED SIGNIFICANTS UNKNOWN 2 0.02% SUBLUXATION/LUXATION 4 0.05% 3 0.03% VITREOUS PERSISTENT HYALOID ARTERY 9 0.11% 22 0.24% PHPV/PTVL 50.06% DEGENERATION (NO FURTHER SPECIFICATION) 5 0.06% 9 0.10% DEGENERATION ANTERIOR CHAMBER 10.01% DEGENERATION SYNERESIS 30.03% FUNDUS RETINAL ATROPHY--GENERALIZED 60 0.72% 25 0.28% RETINAL ATROPHY--SUSPICIOUS 58 0.70% 16 0.18% RETINAL DYSPLASIA FOCAL/FOLDS 47 0.57% 71 0.78% RETINAL DYSPLASIA GEOGRAPHIC 5 0.06% 6 0.07% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.02% CHOROIDAL HYPOPLASIA 2 0.02% RETINAL DETACHMENT 2 0.02% 1 0.01% RETINAL HEMORRHAGE 2 0.02% 6 0.07% OPTIC NERVE COLOBOMA 4 0.05% 2 0.02% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 4 0.05% 1 0.01% OPTIC NERVE HYPOPLASIA 50.06% MICROPAPILLA 50.06% OTHER OTHER, INHERITED 57 0.69% 9 0.10% OTHER, NON -INHERITED 29 0.35% 408 4.50% NORMAL NORMAL 7108 85.62% 7749 85.46%

PUG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 4 NO

B. Distichiasis Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Chronic superficial Not defined 5 NO keratitis/pannus

E. Exposure keratopathy Not defined 1 Breeder option syndrome

F. Macroblepharon Not defined 1,3 Breeder option

G. Persistent pupillary Not defined 3 Breeder option membranes - iris to iris

H. Cataract Not defined 2 NO

I. Vitreous Not defined 3 Breeder option degeneration

J. Optic nerve- Not defined 2 Breeder option micropapilla

Description and Comments

A. Glaucoma

B. Distichiasis

C. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In the Pug, entropion usually involves the medial canthal margin of the lower eyelid(s).

D. Chronic superficial keratitis / Pannus

E. Exposure keratopathy syndrome

The breed standard indicates the Pug should have a "large massive round head with very large, bold and prominent eyes". These characteristics give rise to the ocular exposure and irritative problems common in the breed.

F. Macroblepharon

Defined as an exceptionally large palpebral fissure, macroblepharon in conjunction with laxity of the lateral canthal structures may lead to lower lid ectropion and upper lid entropion. Exposure keratopathy syndrome or macroblepharon may lead to severe ocular irritation.

G. Persistent pupillary membranes (PPM)

H. Cataract

I. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

J. Optic nerve- micropapilla

Hypoplasia of the optic nerve is seen in the pug. In this condition, the optic nerve fails to develop completely. The signs have a variety of expression and degrees of hypoplasia can be found. One or both eyes may be affected. Affected eyes may retain some function or be blind. The mode of inheritance is not clear.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Pug breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Veterinary Ophthalmology 7 (2):97-111, 2004.

5. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

PUG

1991 - 1999 2000-2007 TOTAL NUMBER OF PUG EXAMINED 633 1030

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 30.29% DRY EYE 20.19% EYELIDS ENTROPION 138 21.80% 215 20.87% ECTROPION 3 0.47% 6 0.58% DISTICHIASIS 74 11.69% 98 9.51% ECTOPIC CILIA 3 0.47% 7 0.68% EURY/MACRO BLEPHARON 17 2.69% 38 3.69% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 6 0.95% 5 0.49% DYSTROPHY--ENDOTHELIAL 30.29% DERMOID 1 0.16% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 53 8.37% 27 2.62% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 118 18.64% 199 19.32% UVEA IRIS / CILIARY BODY CYSTS 1 0.16% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 35 5.53% 102 9.90% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.32% 4 0.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 0.79% 9 0.87% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.10% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 23 3.63% 21 2.04% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.32% ANTERIOR CORTEX PUNCTATE* 1 0.16% 1 0.10% ANTERIOR CORTEX INTERMEDIATE* 7 1.11% 5 0.49% ANTERIOR CORTEX DIFFUSE* 10.10% ANT. CORTEX PUNCT. SIGN. UNKNOWN 40.39% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.16% POSTERIOR CORTEX PUNCTATE* 2 0.32% POSTERIOR CORTEX INTERMEDIATE* 5 0.79% 4 0.39% POSTERIOR CORTEX DIFFUSE* 2 0.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 40.39% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.16% EQUATORIAL CORTEX PUNCTATE* 40.39% EQUATORIAL CORTEX INTERMEDIATE* 1 0.16% 2 0.19% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.16% 3 0.29% ANTERIOR SUTURES PUNCTATE* 10.10% POSTERIOR SUTURES PUNCTATE* 50.49% POSTERIOR SUTURES INTERMEDIATE* 5 0.79% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 30.29% NUCLEUS PUNCTATE* 1 0.16% 1 0.10% NUCLEUS INTERMEDIATE* 1 0.16% 1 0.10% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.10% CAPSULAR PUNCTATE 10.10% CAPSULAR INTERMEDIATE 30.29%

PUG

1991 - 1999 2000-2007 CAPSULAR DIFFUSE 10.10% CAPSULAR SIGN. UNKNOWN 1 0.16% 9 0.87% GENERALIZED CATARACT* 3 0.47% 1 0.10% VITREOUS PERSISTENT HYALOID ARTERY 6 0.95% 3 0.29% PHPV/PTVL 10.10% DEGENERATION (NO FURTHER SPECIFICATION) 5 0.79% 4 0.39% DEGENERATION ANTERIOR CHAMBER 30.29% DEGENERATION SYNERESIS 60.58% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.16% 1 0.10% RETINAL ATROPHY--SUSPICIOUS 10.10% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.32% 8 0.78% RETINAL DYSPLASIA GEOGRAPHIC 90.87% STAPHYLOMA / COLOBOMA 10.10% RETINAL DETACHMENT 10.10% RETINAL HEMORRHAGE 1 0.16% OPTIC NERVE COLOBOMA 10.10% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.16% OTHER OTHER, INHERITED 38 6.00% 28 2.72% OTHER, NON -INHERITED 11 1.74% 127 12.33% NORMAL NORMAL 270 42.65% 482 46.80%

PULI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 3,4 Breeder option epithelial/stromal

B. Persistent pupillary Membranes iris to iris Not defined 4 Breeder option iris to lens Not defined 4 NO

C. Cataract Not defined 2 NO

D. Persistent hyaloid Not defined 2 Breeder option artery

E. Retinal dysplasia Not defined 1 Breeder option -folds

A. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Persistent hyaloid artery (PHA) - congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant).

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Puli breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

PULI

1991 - 1999 2000-2007 TOTAL NUMBER OF PULI EXAMINED 367 412

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 4 1.09% 2 0.49% DISTICHIASIS 3 0.82% 2 0.49% ECTOPIC CILIA 10.24% EURY/MACRO BLEPHARON 10.24% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 13 3.54% 4 0.97% DYSTROPHY--ENDOTHELIAL 1 0.27% DERMOID 1 0.27% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 2 0.54% 1 0.24% UVEA IRIS / CILIARY BODY CYSTS 10.24% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 68 18.53% 114 27.67% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.82% 8 1.94% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.82% 3 0.73% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 18 4.90% 5 1.21% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.27% ANTERIOR CORTEX PUNCTATE* 2 0.54% 1 0.24% ANTERIOR CORTEX INTERMEDIATE* 4 1.09% 1 0.24% ANTERIOR CORTEX DIFFUSE* 1 0.27% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10 2.72% 12 2.91% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.27% POSTERIOR CORTEX PUNCTATE* 20.49% POSTERIOR CORTEX INTERMEDIATE* 2 0.54% 1 0.24% POSTERIOR CORTEX DIFFUSE* 1 0.27% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.54% EQUATORIAL CORTEX INTERMEDIATE* 4 1.09% 2 0.49% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 30.73% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.54% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.27% POSTERIOR SUTURES PUNCTATE* 4 1.09% POSTERIOR SUTURES INTERMEDIATE* 10.24% POSTERIOR SUTURES DIFFUSE* 1 0.27% POSTERIOR SUTURES SUSPICIOUS 1 0.27% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 1.63% 4 0.97% NUCLEUS PUNCTATE* 2 0.54% NUCLEUS INTERMEDIATE* 2 0.54% 1 0.24% NUCLEUS PUNCTATE SIGN. UNKNOWN 2 0.54% 1 0.24% CAPSULAR PUNCTATE 10.24% CAPSULAR DIFFUSE 10.24% CAPSULAR SIGN. UNKNOWN 40.97% GENERALIZED CATARACT* 3 0.82% GENERALIZED SIGNIFICANTS UNKNOWN 10.24% SUBLUXATION/LUXATION 1 0.27%

PULI

1991 - 1999 2000-2007 VITREOUS PERSISTENT HYALOID ARTERY 10.24% DEGENERATION (NO FURTHER SPECIFICATION) 10.24% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.27% RETINAL ATROPHY--SUSPICIOUS 1 0.27% 2 0.49% RETINAL DYSPLASIA FOCAL/FOLDS 10 2.72% 29 7.04% RETINAL DYSPLASIA GEOGRAPHIC 20.49% RETINAL DETACHMENT 1 0.27% RETINAL HEMORRHAGE 1 0.27% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.82% MICROPAPILLA 2 0.54% OTHER OTHER, INHERITED 40.97% OTHER, NON -INHERITED 13 3.54% 28 6.80% NORMAL NORMAL 250 68.12% 260 63.11%

PYRENEAN SHEPHERD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary Not defined 1 Breeder option membranes -iris to iris

B. Cataract Not defined 1 NO

C. Choroidal hypoplasia Not defined 1 NO

D. Lens luxation Not defined 1 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Choroidal hypoplasia

Inadequate development of the choroid present at birth and non-progressive. This condition is more commonly identified in the Collie breed where it is a manifestation of "Collie Eye Anomaly".

D. Lens luxation

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Pyrenean shepherd. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

PYRENEAN SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF PYRENEAN SHEPHERD EXAMINED 9 103

Diagnosic Name Number Percent Number Percent THIRD EYELID GLAND PROLAPSE 10.97% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 10.97% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 22.22% 5 4.85% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.97% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 11.11% 5 4.85% ANTERIOR CORTEX PUNCTATE* 21.94% ANTERIOR CORTEX INTERMEDIATE* 21.94% ANT. CORTEX PUNCT. SIGN. UNKNOWN 21.94% POSTERIOR CORTEX INTERMEDIATE* 10.97% EQUATORIAL CORTEX PUNCTATE* 1 11.11% EQUATORIAL CORTEX INTERMEDIATE* 1 11.11% 1 0.97% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.97% NUCLEUS PUNCTATE SIGN. UNKNOWN 32.91% SUBLUXATION/LUXATION 10.97% VITREOUS PERSISTENT HYALOID ARTERY 10.97% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 21.94% CHOROIDAL HYPOPLASIA 65.83% OTHER OTHER, NON -INHERITED 98.74% NORMAL NORMAL 6 66.67% 79 76.70%

RAT TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary membranes iris to iris Not defined 1 Breeder option iris to cornea Not defined 1 NO

C. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Rat terrier. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

RAT TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF RAT TERRIER EXAMINED 8 124

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 12.50% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 32.42% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.81% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 32.42% ANTERIOR CORTEX DIFFUSE* 10.81% POSTERIOR CORTEX INTERMEDIATE* 10.81% POSTERIOR CORTEX DIFFUSE* 10.81% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.81% NUCLEUS DIFFUSE* 10.81% GENERALIZED CATARACT* 10.81% SUBLUXATION/LUXATION 10.81% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 10.81% DEGENERATION SYNERESIS 10.81% FUNDUS RETINAL ATROPHY--SUSPICIOUS 10.81% OTHER OTHER, INHERITED 10.81% NORMAL NORMAL 7 87.50% 115 92.74%

RHODESIAN RIDGEBACK

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 5 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 2,3,4 Breeder option - all other forms Not defined 4 NO

D. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

B. Entropion

C. Persistent pupillary membranes (PPM)

D. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Rhodesian Ridgeback breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

5. Breed club request to ACVO Genetics Committee, 2008.

RHODESIAN RIDGEBACK

1991 - 1999 2000-2007 TOTAL NUMBER OF RHODESIAN RIDGEBACK EXAMINED 544 1692

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.06% EYELIDS ENTROPION 4 0.74% 5 0.30% ECTROPION 10.06% DISTICHIASIS 14 2.57% 45 2.66% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 0.74% 11 0.65% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 10.06% UVEA IRIS / CILIARY BODY CYSTS 20.12% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 20 3.68% 101 5.97% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 4 0.74% 1 0.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.12% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 38 6.99% 55 3.25% ANTERIOR CORTEX PUNCTATE* 1 0.18% 3 0.18% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.55% 19 1.12% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.55% POSTERIOR CORTEX PUNCTATE* 8 1.47% 15 0.89% POSTERIOR CORTEX INTERMEDIATE* 22 4.04% 31 1.83% POST. CORTEX PUNCT. SIGN. UNKNOWN 7 1.29% 9 0.53% EQUATORIAL CORTEX PUNCTATE* 1 0.18% EQUATORIAL CORTEX INTERMEDIATE* 2 0.37% 4 0.24% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.74% 3 0.18% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.18% 3 0.18% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.18% POSTERIOR SUTURES PUNCTATE* 4 0.74% 8 0.47% POSTERIOR SUTURES INTERMEDIATE* 3 0.55% 5 0.30% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 9 1.65% 27 1.60% NUCLEUS INTERMEDIATE* 40.24% NUCLEUS DIFFUSE* 1 0.18% ANTERIOR CAPSULE SIGN. UNKNOWN 2 0.37% CAPSULAR PUNCTATE 60.35% CAPSULAR INTERMEDIATE 1 0.18% 11 0.65% CAPSULAR DIFFUSE 10.06% CAPSULAR SIGN. UNKNOWN 5 0.92% 26 1.54% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.18% GENERALIZED CATARACT* 1 0.18% SUBLUXATION/LUXATION 30.18% VITREOUS PERSISTENT HYALOID ARTERY 10.06% PHPV/PTVL 10.06% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.55% DEGENERATION ANTERIOR CHAMBER 30.18%

RHODESIAN RIDGEBACK

1991 - 1999 2000-2007 DEGENERATION SYNERESIS 20.12% FUNDUS RETINAL ATROPHY--GENERALIZED 10.06% RETINAL ATROPHY--SUSPICIOUS 1 0.18% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.18% 2 0.12% RETINAL DYSPLASIA GEOGRAPHIC 10.06% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.06% RETINAL DETACHMENT 20.12% OPTIC NERVE COLOBOMA 50.30% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.18% OTHER OTHER, INHERITED 2 0.37% 4 0.24% OTHER, NON -INHERITED 4 0.74% 55 3.25% NORMAL NORMAL 433 79.60% 1465 86.58%

ROTTWEILER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1,4 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

C. Iris cysts Not defined 1,2,3 Breeder option

D. Persistent pupillary Not defined 5 Breeder option membranes- -iris to iris

E. Cataract Not defined 1,2 NO

F. Retinal atrophy Not defined 1 NO -generalized

G. Retinal dysplasia Not defined 1,3 Breeder option -folds

Description and Comments

A. Entropion

Entropion in the Rottweiler has been observed with increasing frequency in the past few years. Selection should be directed against entropion and toward a head conformation that minimizes or eliminates the likelihood of the defect. The entropion usually involves the lower eyelids in this breed and requires surgical correction.

B. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Iris cysts

Fluid filled sacs arising from the posterior surface of the iris, to which they may remain attached or break free and float into the anterior chamber. Usually occur in mature dogs.

D. Persistent pupillary membranes (PPM)

E. Cataract

A variety of cataracts have been observed in this breed ranging from the posterior polar cataract similar to that in the Golden retriever and cataracts involving multiple areas of the nucleus and cortex. Further studies need to be performed as to the exact mode of inheritance, but it is our recommendation that the individually afflicted dog should not be bred.

F. Retinal atrophy-generalized

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Bjerkas E, Bergsjo T: Hereditary cataract in the Rottweiler dog. Prog Vet Comp Ophthal 1:7, 1991.

3. Bedford PGC: Multifocal retinal dysplasia in the rottweiler. Vet Rec 111:304, 1982.

4. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

5. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

ROTTWEILER

1991 - 1999 2000-2007 TOTAL NUMBER OF ROTTWEILER EXAMINED 5756 4085

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.02% EYELIDS ENTROPION 63 1.09% 30 0.73% ECTROPION 13 0.23% 13 0.32% DISTICHIASIS 29 0.50% 24 0.59% ECTOPIC CILIA 10.02% EURY/MACRO BLEPHARON 1 0.02% 7 0.17% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.05% GLAND PROLAPSE 5 0.09% 2 0.05% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 60 1.04% 38 0.93% DYSTROPHY--ENDOTHELIAL 3 0.05% 3 0.07% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.02% UVEA IRIS / CILIARY BODY CYSTS 45 0.78% 59 1.44% IRIS COLOBOMA 21 0.36% 11 0.27% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.02% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 26 0.45% 34 0.83% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 17 0.30% 17 0.42% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 22 0.38% 11 0.27% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 6 0.10% 2 0.05% ENDOTHELIAL PIGMENT/NO PPM 10.02% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 538 9.35% 335 8.20% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 27 0.47% ANTERIOR CORTEX PUNCTATE* 30 0.52% 25 0.61% ANTERIOR CORTEX INTERMEDIATE* 39 0.68% 39 0.95% ANTERIOR CORTEX DIFFUSE* 7 0.12% 2 0.05% ANTERIOR CORTEX SUSPICIOUS 2 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 96 1.67% 128 3.13% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 89 1.55% POSTERIOR CORTEX PUNCTATE* 110 1.91% 52 1.27% POSTERIOR CORTEX INTERMEDIATE* 178 3.09% 179 4.38% POSTERIOR CORTEX DIFFUSE* 6 0.10% 1 0.02% POSTERIOR CORTEX SUSPICIOUS 16 0.28% POST. CORTEX PUNCT. SIGN. UNKNOWN 32 0.56% 26 0.64% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 8 0.14% EQUATORIAL CORTEX PUNCTATE* 2 0.03% 2 0.05% EQUATORIAL CORTEX INTERMEDIATE* 9 0.16% 16 0.39% EQUATORIAL CORTEX DIFFUSE* 2 0.03% 1 0.02% EQUATORIAL CORTEX SUSPICIOUS 2 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 9 0.16% 8 0.20% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 5 0.09%

ROTTWEILER

1991 - 1999 2000-2007 ANTERIOR SUTURES PUNCTATE* 2 0.03% 7 0.17% ANTERIOR SUTURES INTERMEDIATE* 4 0.07% 5 0.12% ANTERIOR SUTURES SUSPICIOUS 2 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10 0.17% 22 0.54% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 18 0.31% POSTERIOR SUTURES PUNCTATE* 38 0.66% 15 0.37% POSTERIOR SUTURES INTERMEDIATE* 40 0.69% 23 0.56% POSTERIOR SUTURES DIFFUSE* 1 0.02% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 18 0.31% 26 0.64% NUCLEUS (SIZE UNSPECIFIED)* 9 0.16% NUCLEUS PUNCTATE* 7 0.12% 7 0.17% NUCLEUS INTERMEDIATE* 25 0.43% 14 0.34% NUCLEUS DIFFUSE* 2 0.03% NUCLEUS SUSPICIOUS 3 0.05% NUCLEUS PUNCTATE SIGN. UNKNOWN 27 0.47% 24 0.59% ANTERIOR CAPSULE 9 0.16% ANTERIOR CAPSULE SIGN. UNKNOWN 12 0.21% ANTERIOR CAPSULE SUSPICIOUS 1 0.02% CAPSULAR PUNCTATE 3 0.05% 12 0.29% CAPSULAR INTERMEDIATE 15 0.37% CAPSULAR DIFFUSE 10.02% CAPSULAR SIGN. UNKNOWN 17 0.30% 91 2.23% POSTERIOR CAPSULE 53 0.92% POSTERIOR CAPSULE SIGN. UNKNOWN 4 0.07% POSTERIOR CAPSULE SUSPICIOUS 10 0.17% GENERALIZED CATARACT* 12 0.21% 6 0.15% SUBLUXATION/LUXATION 1 0.02% 1 0.02% VITREOUS PERSISTENT HYALOID ARTERY 12 0.21% 6 0.15% PHPV/PTVL 3 0.05% 3 0.07% DEGENERATION (NO FURTHER SPECIFICATION) 23 0.40% 12 0.29% DEGENERATION ANTERIOR CHAMBER 40.10% DEGENERATION SYNERESIS 50.12% FUNDUS RETINAL ATROPHY--GENERALIZED 20 0.35% 5 0.12% RETINAL ATROPHY--SUSPICIOUS 98 1.70% 38 0.93% RETINAL DYSPLASIA FOCAL/FOLDS 53 0.92% 38 0.93% RETINAL DYSPLASIA GEOGRAPHIC 23 0.40% 7 0.17% RETINAL DETACHMENT 1 0.02% OPTIC NERVE COLOBOMA 20.05% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 10 0.17% 1 0.02% OPTIC NERVE HYPOPLASIA 30.07% MICROPAPILLA 50.12% OTHER OTHER, INHERITED 106 1.84% 29 0.71% OTHER, NON -INHERITED 22 0.38% 247 6.05% NORMAL NORMAL 4483 77.88% 3293 80.61%

RUSSIAN TSVETNAYA BOLONKA

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Vitreous degeneration - anterior chamber Not defined 1 Breeder option

Description and Comments

A. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment which results in blindness when complete.

References

There are no references providing detailed descriptions of hereditary conditions of the Russian tsvetnaya bolonka breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

RUSSIAN TSVETNAYA BOLONKA

1991 - 1999 2000-2007 TOTAL NUMBER OF RUSSIAN TSVETNAYA BOLONKA 39 EXAMINED Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 12.56% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 12.56% ANT. CORTEX PUNCT. SIGN. UNKNOWN 12.56% EQUATORIAL CORTEX INTERMEDIATE* 12.56% VITREOUS PHPV/PTVL 12.56% DEGENERATION ANTERIOR CHAMBER 512.82% DEGENERATION SYNERESIS 37.69% OTHER OTHER, NON -INHERITED 12.56% NORMAL NORMAL 35 89.74%

SAINT BERNARD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Not defined 1,2 NO multiple ocular defects

B. Macroblepharon Not defined 8 Breeder option

C. Ectropion Not defined 1 Breeder option

D. Entropion Not defined 1,3,7 Breeder option

E. Dermoid Not defined 1,3-6 Breeder option

F. Persistent pupillary Not defined 9 Breeder option membrane - iris to iris

G. Cataract Not defined 1 NO

Description and Comments

A. Microphthalmia with multiple ocular defects

Multiple ocular defects have been described in Saint Bernard puppies. The syndrome was composed of microphthalmia, microphakia, aphakia, acoria, peripheral anterior synechia, and retinal dysplasia. Glaucoma was also reported. Although the cause was not proven to be hereditary, the fact that several of these dogs were related suggests a hereditary basis. Affected dogs should not be bred.

B. Macroblepharon

C. Ectropion

D. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. In this breed, entropion is associated with an exceptionally large palpebral fissure.

E. Dermoid

A patch of skin, usually located on the cornea; its presence usually causes ocular irritation.

F. Persistent pupillary membranes (PPM)

G. Cataract

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Martin CL, Leipold HW: Aphakia and multiple ocular defects in Saint Bernard puppies. Vet Med Small Anim Clin 69:448, 1974.

3. Priester WA: Congenital ocular defects in cattle, horses, cats, and dogs. J Am Vet Med Assoc 160:1504, 1972.

4. Gelatt KN: Bilateral corneal dermoids and distichiasis in a dog. Vet Med 66:658, 1971.

5. Kittel H: Deut Tieraerztl Wochenschr 52:793, 1931.

6. Szczudlowska M: Dermoid cyst of the eye in relation to heredity and overfeeding. Med Vet 23:567, 1967.

7. ACVO Genetics Committee, 2001 and/or Data from CERF All-Breeds Report, 2001.

8. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

9. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

SAINT BERNARD

1991 - 1999 2000-2007 TOTAL NUMBER OF SAINT BERNARD EXAMINED 58 73

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 19 32.76% 12 16.44% ECTROPION 24 41.38% 28 38.36% DISTICHIASIS 4 6.90% 2 2.74% EURY/MACRO BLEPHARON 2 3.45% 12 16.44% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 1.72% GLAND PROLAPSE 1 1.72% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 11.37% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 3.45% 6 8.22% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 6 10.34% 9 12.33% ANTERIOR CORTEX INTERMEDIATE* 1 1.72% ANTERIOR CORTEX DIFFUSE* 11.37% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 3.45% POSTERIOR CORTEX PUNCTATE* 11.37% POSTERIOR CORTEX INTERMEDIATE* 2 3.45% 1 1.37% POSTERIOR CORTEX DIFFUSE* 22.74% EQUATORIAL CORTEX PUNCTATE* 11.37% EQUATORIAL CORTEX INTERMEDIATE* 3 5.17% 2 2.74% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 3.45% 2 2.74% NUCLEUS INTERMEDIATE* 34.11% NUCLEUS DIFFUSE* 11.37% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 1.72% CAPSULAR PUNCTATE 11.37% CAPSULAR SIGN. UNKNOWN 22.74% GENERALIZED CATARACT* 1 1.72% 2 2.74% VITREOUS PERSISTENT HYALOID ARTERY 2 3.45% PHPV/PTVL 11.37% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 2 3.45% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 1.72% OTHER OTHER, INHERITED 4 6.90% 4 5.48% OTHER, NON -INHERITED 45.48% NORMAL NORMAL 19 32.76% 32 43.84%

SALUKI

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes iris to iris Not defined 1,2 Breeder option all other forms Not defined 2 NO

B. Cataract Not defined 1 NO

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Saluki breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003- 2004.

SALUKI

1991 - 1999 2000-2007 TOTAL NUMBER OF SALUKI EXAMINED 102 88

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.98% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 1.96% 1 1.14% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 22.27% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 22.27% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 1.96% 4 4.55% ANTERIOR CORTEX PUNCTATE* 1 0.98% ANTERIOR CORTEX DIFFUSE* 11.14% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 2.94% POSTERIOR CORTEX PUNCTATE* 1 0.98% 1 1.14% POSTERIOR CORTEX INTERMEDIATE* 11.14% POSTERIOR CORTEX DIFFUSE* 11.14% POST. CORTEX PUNCT. SIGN. UNKNOWN 11.14% EQUATORIAL CORTEX INTERMEDIATE* 22.27% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.98% 1 1.14% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.98% POSTERIOR SUTURES PUNCTATE* 1 0.98% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.98% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.98% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.98% CAPSULAR SIGN. UNKNOWN 1 0.98% 1 1.14% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 22.27% DEGENERATION ANTERIOR CHAMBER 11.14% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.98% RETINAL ATROPHY--SUSPICIOUS 1 0.98% OPTIC NERVE COLOBOMA 1 0.98% OTHER OTHER, NON -INHERITED 2 1.96% 3 3.41% NORMAL NORMAL 86 84.31% 74 84.09%

SAMOYED

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1,2 Breeder option - epithelial/stromal

C. Uveodermatologic Not defined 1,3,4 NO syndrome

D. Glaucoma Not defined 1,5-9,15 NO

E. Persistent pupillary membranes - iris to iris Not defined 1,16 Breeder option - all other forms Not defined 16 NO

F. Cataract Not defined 1 NO

G. Retinal atrophy Presumed 1,10 NO - generalized autosomal recessive

H. Retinal dysplasia Presumed 1, 11-14 NO - folds autosomal (Breeder option recessive with “Normal” DNA test)

I. Retinal dysplasia Presumed 1, 11-14 NO - geographic/ autosomal detached recessive

J. Retinal dysplasia Presumed 1, 11-14 NO - folds or detached incomplete w/ skeletal dominant dwarfism

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Uveodermatologic syndrome

Uveodermatologic syndrome in the Samoyed bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune-mediated disease in which pigmented cells (melanocytes) in the eye and in the skin are destroyed by white blood cells (lymphocytes). The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. Adhesions between the iris and lens (posterior synechiae) and the peripheral iris and cornea (peripheral anterior synechiae) develop rapidly. Other complications include cataract development, retinal degeneration, retinal separation or detachment, optic disc atrophy and secondary glaucoma. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. Whitening of the hair (poliosis) and skin (vitiligo) may also be noted in advanced cases. Some veterinary ophthalmologists feel there is a prevalence of this entity in the Samoyed. Additional studies are needed to validate this experience and explore the possibility of a genetic basis.

D. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

E. Persistent pupillary membranes (PPM)

In the Samoyed, many of the PPM identified on routine screening examinations bridge from the iris to the cornea where they may be associated with corneal opacity and vision impairment.

F. Cataract

G. Retinal atrophy-generalized

For DNA testing contact Optigen®: XL-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

H. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness.

In the Samoyed, the presence of retinal folds may be seen in the heterozygous state described in “J” below thus the recommendation against breeding.

I. Retinal dysplasia - geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

J. Retinal dysplasia - folds or detachment with skeletal defects

Based on studies of the Samoyed and a recent report of a limited family of dogs, one form of retinal dysplasia in the Samoyed is an inherited defect similar to that reported in the Labrador retriever affecting the forelimb and the eye. The gene has recessive effects on the skeleton and incomplete dominant effects on the eye. Affected dogs are of small stature with valgus deformity of the carpi. Ocular abnormalities include cataract and retinal folds/multifocal retinal dysplasia and detachment. The genes for dwarfism and retinal dysplasia exhibit pleiotrophy. When homozygous for dwarfism, skeletal and ocular defects will be seen. In the heterozygous state multiple retinal folds/multifocal retinal dysplasia are seen. Dogs without the gene for dwarfism may have focal/multifocal retinal dysplasia but no skeletal defects.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Crispin SM, Barnett KC: Dystrophy, degeneration and infiltration of the canine cornea. J Small Anim Pract 24:63, 1983.

3. Bussanich MN et al: Granulomatous panuveitis and dermal depigmentation in dogs. J Am Anim Hosp Assoc 18:131, 1982.

4. Halliwell, REW: Autoimmune diseases in domestic animals. J Am Vet Med Assoc 181:1088, 1982.

5. Ekesten B, Narfstrom K: Correlation of morphologic features of the iridocorneal angle to intraocular pressure in Samoyeds. Am J Vet Res 52:1875, 1991.

6. Ekesten B, Narfstrom K: Age-related changes in intraocular pressure and iridocorneal angle in Samoyeds. Prog Vet Comp Ophthal 2:37, 1992

7. Ekesten B: Correlation of intraocular distances to the iridocorneal angle in samoyeds with special reference to angle-closure glaucoma. Prog Vet Comp Ophthal 3:67, 1993.

8. Ekesten B, Torrang I. Heritability of the depth of the opening of the ciliary cleft in Samoyeds. Am J Vet Res 56:1138, 1995.

9. Ekesten B. Biological variability and measurement error variability in ocular biometry in Samoyed dogs. Acta Veterinaria Scandanavica 35:427, 1994.

10. Dice PF: Progressive retinal atrophy in the Samoyed. Mod Vet Pract 1:59, 1980.

11. Meyers VN et al: Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc 183:975, 1983.

12. Acland GM, Aguirre GD: Retinal dysplasia in the Samoyed dog is the heterozygous phenotype of the gene (drds) for short-limbed dwarfism and ocular defects. Trans Amer College Vet Ophthalmol 22:44, 1991.

13. Acland GM, Aguirre GD: Oculoskeletal dysplasia in the Samoyed and Labrador retriever dogs: 2 nonallelic disorders akin to Stickler-like syndrome affecting humans. Presented at the 2nd International DOGMAP Meeting, Cambridge, Great Britain, 1995.

14. Aroch I, Ofri R, Aizenberg I: Haemotological, ocular and skeletal abnormalities in a Samoyed family. J Small Anim Pract 37:333, 1996.

15. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Vet Ophthal 2:97, 2004.

16. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

SAMOYED

1991 - 1999 2000-2007 TOTAL NUMBER OF SAMOYED EXAMINED 7518 8184

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 13 0.17% 6 0.07% DRY EYE 2 0.03% 4 0.05% GLAUCOMA 8 0.11% 1 0.01% EYELIDS ENTROPION 2 0.03% 1 0.01% ECTROPION 30.04% DISTICHIASIS 464 6.17% 407 4.97% ECTOPIC CILIA 5 0.07% 1 0.01% EURY/MACRO BLEPHARON 1 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 3 0.04% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 245 3.26% 261 3.19% DYSTROPHY--ENDOTHELIAL 7 0.09% 3 0.04% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.04% 1 0.01% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.01% UVEA IRIS / CILIARY BODY CYSTS 60.07% IRIS COLOBOMA 1 0.01% UVEAL MELANOMA 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 79 1.05% 178 2.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 6 0.08% 12 0.15% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 14 0.19% 16 0.20% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 4 0.05% 11 0.13% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 260 3.46% 216 2.64% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 8 0.11% ANTERIOR CORTEX PUNCTATE* 15 0.20% 18 0.22% ANTERIOR CORTEX INTERMEDIATE* 29 0.39% 26 0.32% ANTERIOR CORTEX DIFFUSE* 3 0.04% 1 0.01% ANTERIOR CORTEX SUSPICIOUS 3 0.04% ANT. CORTEX PUNCT. SIGN. UNKNOWN 73 0.97% 133 1.63% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 41 0.55% POSTERIOR CORTEX PUNCTATE* 48 0.64% 41 0.50% POSTERIOR CORTEX INTERMEDIATE* 78 1.04% 95 1.16% POSTERIOR CORTEX DIFFUSE* 20 0.27% 9 0.11% POSTERIOR CORTEX SUSPICIOUS 14 0.19% POST. CORTEX PUNCT. SIGN. UNKNOWN 35 0.47% 36 0.44% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.03% EQUATORIAL CORTEX PUNCTATE* 4 0.05% 5 0.06% EQUATORIAL CORTEX INTERMEDIATE* 8 0.11% 7 0.09% EQUATORIAL CORTEX DIFFUSE* 3 0.04% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 15 0.20% 20 0.24% ANTERIOR SUTURES PUNCTATE* 30.04% ANTERIOR SUTURES INTERMEDIATE* 1 0.01% 4 0.05%

SAMOYED

1991 - 1999 2000-2007 ANTERIOR SUTURES SUSPICIOUS 2 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 16 0.21% 10 0.12% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 7 0.09% POSTERIOR SUTURES PUNCTATE* 21 0.28% 20 0.24% POSTERIOR SUTURES INTERMEDIATE* 14 0.19% 23 0.28% POSTERIOR SUTURES DIFFUSE* 4 0.05% 1 0.01% POSTERIOR SUTURES SUSPICIOUS 3 0.04% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10 0.13% 32 0.39% NUCLEUS (SIZE UNSPECIFIED)* 5 0.07% NUCLEUS PUNCTATE* 3 0.04% 4 0.05% NUCLEUS INTERMEDIATE* 10 0.13% 10 0.12% NUCLEUS DIFFUSE* 3 0.04% 1 0.01% NUCLEUS SUSPICIOUS 1 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 21 0.28% 20 0.24% ANTERIOR CAPSULE 6 0.08% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.04% ANTERIOR CAPSULE SUSPICIOUS 3 0.04% CAPSULAR PUNCTATE 1 0.01% 9 0.11% CAPSULAR INTERMEDIATE 11 0.13% CAPSULAR SIGN. UNKNOWN 9 0.12% 61 0.75% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.01% POSTERIOR CAPSULE 21 0.28% POSTERIOR CAPSULE SIGN. UNKNOWN 5 0.07% POSTERIOR CAPSULE SUSPICIOUS 7 0.09% GENERALIZED CATARACT* 5 0.07% 5 0.06% GENERALIZED SUSPICIOUS 1 0.01% GENERALIZED SIGNIFICANTS UNKNOWN 3 0.04% SUBLUXATION/LUXATION 2 0.03% 1 0.01% VITREOUS PERSISTENT HYALOID ARTERY 10 0.13% 9 0.11% PHPV/PTVL 6 0.08% 3 0.04% DEGENERATION (NO FURTHER SPECIFICATION) 37 0.49% 20 0.24% DEGENERATION SYNERESIS 90.11% FUNDUS RETINAL ATROPHY--GENERALIZED 14 0.19% 2 0.02% RETINAL ATROPHY--SUSPICIOUS 22 0.29% 8 0.10% RETINAL DYSPLASIA FOCAL/FOLDS 168 2.23% 199 2.43% RETINAL DYSPLASIA GEOGRAPHIC 50 0.67% 58 0.71% RETINAL DYSPLASIA GENERALIZED/DETACHED 7 0.09% 8 0.10% CHOROIDAL HYPOPLASIA 1 0.01% 3 0.04% STAPHYLOMA / COLOBOMA 3 0.04% 3 0.04% RETINAL DETACHMENT 8 0.11% RETINAL HEMORRHAGE 2 0.03% OPTIC NERVE COLOBOMA 32 0.43% 33 0.40% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 12 0.16% OPTIC NERVE HYPOPLASIA 10.01% MICROPAPILLA 10 0.12% OTHER OTHER, INHERITED 75 1.00% 46 0.56%

SAMOYED

1991 - 1999 2000-2007 OTHER, NON -INHERITED 61 0.81% 337 4.12% NORMAL NORMAL 5981 79.56% 6887 84.15%

SCHAPENDOES

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Not defined 1 NO - generalized

Description and Comments

A. Retinal atrophy-generalized

References

1. Lippmann T, Jonkisz A, Dobosz T, et al: Haplotype-defined linkage region for gPRA in Schapendoes dogs. Molecular Vision 13:174-180, 2007.

SCHAPENDOES

1991 - 1999 2000-2007 TOTAL NUMBER OF SCHAPENDOES EXAMINED 32

Diagnosic Name Number Percent Number Percent LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 13.13% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 13.13% POSTERIOR SUTURES INTERMEDIATE* 13.13% VITREOUS PERSISTENT HYALOID ARTERY 13.13% DEGENERATION (NO FURTHER SPECIFICATION) 13.13% OTHER OTHER, NON -INHERITED 515.63% NORMAL NORMAL 28 87.50%

SCHIPPERKE

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 2,3 Breeder option

B. Persistent pupillary membranes - iris to iris Not defined 1,3 Breeder option - iris sheets Not defined 6 NO - all other forms Not defined 3 NO

C. Cataract Not defined 1 NO

D. Vitreous Not defined 5,6 Breeder option degeneration

E. Retinal atrophy Presumed 1 NO - generalized autosomal recessive

F. Retinal dysplasia Not defined 4 Breeder option - folds

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

A liquefication of the vitreous gel which may predispose to retinal detachment and/or glaucoma. Either condition may cause blindness.

E. Retinal atrophy-generalized

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Schipperke breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

6. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

SCHIPPERKE

1991 - 1999 2000-2007 TOTAL NUMBER OF SCHIPPERKE EXAMINED 437 548

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.18% EYELIDS DISTICHIASIS 7 1.60% 14 2.55% CORNEA DYSTROPHY--ENDOTHELIAL 1 0.23% 1 0.18% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.23% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 24 5.49% 35 6.39% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.23% 5 0.91% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 20.36% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.23% 9 1.64% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 14 3.20% 22 4.01% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.46% ANTERIOR CORTEX PUNCTATE* 2 0.46% 5 0.91% ANTERIOR CORTEX INTERMEDIATE* 3 0.69% 11 2.01% ANTERIOR CORTEX DIFFUSE* 20.36% ANT. CORTEX PUNCT. SIGN. UNKNOWN 8 1.83% 18 3.28% POSTERIOR CORTEX INTERMEDIATE* 1 0.23% 7 1.28% POSTERIOR CORTEX DIFFUSE* 10.18% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.18% EQUATORIAL CORTEX PUNCTATE* 1 0.23% 1 0.18% EQUATORIAL CORTEX INTERMEDIATE* 4 0.92% 3 0.55% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 3 0.69% 1 0.18% ANTERIOR SUTURES SUSPICIOUS 1 0.23% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.23% 1 0.18% POSTERIOR SUTURES INTERMEDIATE* 10.18% POSTERIOR SUTURES SUSPICIOUS 1 0.23% NUCLEUS (SIZE UNSPECIFIED)* 2 0.46% NUCLEUS PUNCTATE* 1 0.23% 1 0.18% NUCLEUS INTERMEDIATE* 20.36% NUCLEUS DIFFUSE* 1 0.23% NUCLEUS SUSPICIOUS 2 0.46% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.23% 1 0.18% CAPSULAR INTERMEDIATE 10.18% CAPSULAR SIGN. UNKNOWN 30.55% GENERALIZED CATARACT* 1 0.23% 3 0.55% VITREOUS PHPV/PTVL 10.18% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.69% 7 1.28% DEGENERATION SYNERESIS 20.36% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.46% RETINAL ATROPHY--SUSPICIOUS 4 0.92% 6 1.09% RETINAL DYSPLASIA FOCAL/FOLDS 50.91%

SCHIPPERKE

1991 - 1999 2000-2007 RETINAL DYSPLASIA GEOGRAPHIC 30.55% OTHER OTHER, INHERITED 3 0.69% 1 0.18% OTHER, NON -INHERITED 6 1.37% 39 7.12% NORMAL NORMAL 362 82.84% 456 83.21%

SCOTTISH TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes iris to iris Not defined 1,3 Breeder option iris to lens Not defined 2 NO all other forms Not defined 3 NO

B. Cataract Not defined 1 NO

C. Vitreous Not defined 4 Breeder option degeneration

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Scottish Terrier breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

SCOTTISH TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF SCOTTISH TERRIER EXAMINED 160 336

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 1 0.63% 2 0.60% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.63% 3 0.89% DYSTROPHY--ENDOTHELIAL 1 0.63% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.63% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 10.30% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 43 26.88% 91 27.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 16 10.00% 17 5.06% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 5 3.13% 3 0.89% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.63% 2 0.60% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 12 7.50% 16 4.76% ANTERIOR CORTEX PUNCTATE* 3 1.88% 3 0.89% ANTERIOR CORTEX INTERMEDIATE* 1 0.63% 2 0.60% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 1.25% 9 2.68% POSTERIOR CORTEX PUNCTATE* 1 0.63% 1 0.30% POSTERIOR CORTEX INTERMEDIATE* 1 0.63% 2 0.60% POST. CORTEX PUNCT. SIGN. UNKNOWN 3 1.88% 3 0.89% EQUATORIAL CORTEX PUNCTATE* 20.60% EQUATORIAL CORTEX INTERMEDIATE* 30.89% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 1.25% 3 0.89% ANTERIOR SUTURES PUNCTATE* 20.60% ANTERIOR SUTURES INTERMEDIATE* 1 0.63% ANTERIOR SUTURES DIFFUSE* 10.30% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.30% POSTERIOR SUTURES PUNCTATE* 10.30% POSTERIOR SUTURES INTERMEDIATE* 1 0.63% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.63% 1 0.30% NUCLEUS PUNCTATE* 1 0.63% 1 0.30% NUCLEUS INTERMEDIATE* 4 2.50% 3 0.89% NUCLEUS DIFFUSE* 1 0.63% NUCLEUS SUSPICIOUS 1 0.63% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 3.13% 5 1.49% ANTERIOR CAPSULE SIGN. UNKNOWN 2 1.25% CAPSULAR PUNCTATE 10.30% CAPSULAR INTERMEDIATE 20.60% CAPSULAR SIGN. UNKNOWN 21 6.25% VITREOUS PERSISTENT HYALOID ARTERY 1 0.63% DEGENERATION (NO FURTHER SPECIFICATION) 41.19% DEGENERATION ANTERIOR CHAMBER 10.30% FUNDUS RETINAL ATROPHY--GENERALIZED 2 1.25% 2 0.60% RETINAL ATROPHY--SUSPICIOUS 30.89%

SCOTTISH TERRIER

1991 - 1999 2000-2007 RETINAL DYSPLASIA FOCAL/FOLDS 41.19% OPTIC NERVE COLOBOMA 10.30% OTHER OTHER, INHERITED 5 3.13% 10 2.98% OTHER, NON -INHERITED 50 14.88% NORMAL NORMAL 85 53.13% 191 56.85%

SEALYHAM TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 7 Breeder option

B. Persistent pupillary membranes iris to iris Not defined 6,7,8 Breeder option all other forms Not defined 8 NO

C. Cataract Not defined 8 NO

D. Lens luxation Not defined 1-4 NO

E. Retinal dysplasia Presumed 1,5 Breeder option - folds autosomal recessive

F. Retinal dysplasia Presumed 1,5 NO - geographic/ autosomal detached recessive

Description and Comments

A. Distichiasis

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Lens luxation

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

F. Retinal dysplasia- geographic, detached

Abnormal development of the retina present at birth.

Retinal dysplasia- geographic: Any irregularly shaped area of abnormal retinal development containing both areas of thinning and areas of elevation representing folds and retinal disorganization.

Retinal dysplasia - detached: Severe retinal disorganization associated with separation (detachment) of the retina.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Formston C: Observations on subluxation and luxation of the crystalline lens in the dog. J Comp Pathol 55:168, 1945.

3. Hodgman SFJ: Abnormalities and defects in pedigree dogs. I. An investigation into abnormalities in pedigree dogs in the British Isles. J Small Anim Pract 4:447, 1963.

4. Curtis, Barnett: Primary lens luxation in the dog. J Small Anim Pract 21:657, 1980.

5. Aston N, Barnett KC, Sacks DD: Retinal dysplasia in the Sealyham terrier. J Pathol Bacteriol 96:269, 1968.

6. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

7. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

SEALYHAM TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF SEALYHAM TERRIER EXAMINED 82 269

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 2 2.44% 12 4.46% THIRD EYELID GLAND PROLAPSE 10.37% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 3.66% 21 7.81% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 20.74% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.37% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.74% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 9 10.98% 11 4.09% ANTERIOR CORTEX PUNCTATE* 2 2.44% 1 0.37% ANTERIOR CORTEX INTERMEDIATE* 1 1.22% 2 0.74% ANTERIOR CORTEX DIFFUSE* 10.37% ANT. CORTEX PUNCT. SIGN. UNKNOWN 4 4.88% 7 2.60% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 1.22% POSTERIOR CORTEX PUNCTATE* 10.37% POSTERIOR CORTEX INTERMEDIATE* 4 4.88% 4 1.49% EQUATORIAL CORTEX INTERMEDIATE* 10.37% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.37% POSTERIOR SUTURES INTERMEDIATE* 1 1.22% POSTERIOR SUTURES DIFFUSE* 10.37% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.37% NUCLEUS INTERMEDIATE* 10.37% CAPSULAR PUNCTATE 10.37% CAPSULAR INTERMEDIATE 20.74% CAPSULAR SIGN. UNKNOWN 20.74% POSTERIOR CAPSULE 1 1.22% GENERALIZED CATARACT* 3 3.66% 1 0.37% SUBLUXATION/LUXATION 41.49% VITREOUS PHPV/PTVL 10.37% DEGENERATION (NO FURTHER SPECIFICATION) 1 1.22% 2 0.74% DEGENERATION SYNERESIS 10.37% FUNDUS RETINAL ATROPHY--SUSPICIOUS 11 4.09% RETINAL DYSPLASIA FOCAL/FOLDS 1 1.22% 7 2.60% RETINAL DYSPLASIA GEOGRAPHIC 10.37% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 1.22% STAPHYLOMA / COLOBOMA 1 1.22% RETINAL DETACHMENT 1 1.22% OTHER OTHER, INHERITED 10.37% OTHER, NON -INHERITED 82.97%

SEALYHAM TERRIER

1991 - 1999 2000-2007 NORMAL NORMAL 65 79.27% 226 84.01%

SHETLAND SHEEPDOG (Sheltie)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1-3 Breeder option - epithelial/stromal

C. Persistent pupillary membranes - iris to iris Not defined 1,5 Breeder option - all other forms Not defined 5 NO

D. Cataract Not defined 1 NO

E. Choroidal hypoplasia Recessive 1,4,7 NO Optic nerve coloboma Not defined NO retinal detachment retinal hemorrhage staphyloma/coloboma

F. Retinal atrophy Not defined 1 NO - generalized

G. Slowly progressive Not defined 6 NO retinopathy

H. Optic nerve Not defined 1 NO coloboma

I. Uveodermatologic Not defined 1 NO syndrome

Description and Comments

A. Distichiasis

Distichiasis in the Shetland Sheepdog usually involves stiff lashes which require permanent epilation.

B. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

The corneal changes in the Shetland Sheepdog are characterized grossly by multifocal, central, subepithelial and superficial stromal, grey-white, circular or irregular rings. Some affected animals develop corneal erosions. The preocular tear film in the majority of dogs is unstable and requires symptomatic therapy to keep the patients comfortable. Further studies are necessary to define this disorder.

C. Persistent pupillary membranes (PPM)

Persistent blood vessel remnants in the anterior chamber of the eye which fail to regress normally during the first three months of life. These strands may bridge from iris to iris, iris to cornea, iris to lens, or form sheets of tissue in the anterior chamber. The last three forms are seen in the Shetland sheepdog and pose the greatest threat to vision and when severe, vision impairment or blindness may occur.

D. Cataract

E. Choroidal hypoplasia optic nerve coloboma retinal detachment retinal hemorrhage staphyloma/coloboma

F. Retinal atrophy-generalized

G. Slowly progressive retinopathy:

A syndrome as yet not well defined. May be a variant of PRA.

H. Optic nerve coloboma (without choroidal hypoplasia)

A congenital cavity in the optic nerve which, if large, may cause blindness or vision impairment.

I. Uveodermatologic syndrome

Uveodermatologic syndrome in the Sheltie bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune-mediated disease in which pigmented cells (melanocytes) in the eye and in the skin are destroyed by white blood cells (lymphocytes). The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. Adhesions between the iris and lens (posterior synechia) and the peripheral iris and cornea (peripheral anterior synechia) develop rapidly. Other complications include cataract development, retinal degeneration, retinal separation or detachment, optic disc atrophy and secondary glaucoma. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. Whitening of the hair (poliosis) and skin (vitiligo) may also be noted in advanced cases. The genetics of this condition are unclear, but some genetic predisposition is indicated by the higher prevalence of this disorder in Shelties compared with other dog breeds. Affected dogs are generally young, ranging in age between 1 ½ to 4 years. Uveodermatologic syndrome

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Dice P: Corneal dystrophy in the Shetland Sheepdog. Trans Am Coll Vet Ophthalmol 15:241, 1984.

3. Crispin S, Barnett KC: Dystrophy, degeneration and infiltration of the canine cornea. J Small Anim Pract 24:63, 1983.

4. Barnett KC, Staades FC: Collie eye anomaly in the Shetland sheepdog in the Netherlands. J Small Anim Prac 20:321, 1979.

5. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

6. Karlstam L, Hertil E, Ekesten B: A slowly progressive retinopathy in the Shetland Sheepdog. Abstract #1. Vet Ophthalmol 9:434, 2006.

7. Parker HG, Kukekova AV, Dayna TA, Orly G, et al: Breed relationships facilitate fine- mapping studies: A 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Research 17:1562-1571, 2007.

SHETLAND SHEEPDOG

1991 - 1999 2000-2007 TOTAL NUMBER OF SHETLAND SHEEPDOG EXAMINED 14864 13505

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 25 0.17% 24 0.18% DRY EYE 1 0.01% 2 0.01% GLAUCOMA 1 0.01% 1 0.01% EYELIDS ENTROPION 2 0.01% 2 0.01% ECTROPION 3 0.02% 7 0.05% DISTICHIASIS 1173 7.89% 767 5.68% ECTOPIC CILIA 5 0.03% 3 0.02% THIRD EYELID CARTILAGE ANOMALY/EVERSION 30.02% GLAND PROLAPSE 1 0.01% 2 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 3 0.02% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 416 2.80% 353 2.61% DYSTROPHY--ENDOTHELIAL 11 0.07% 16 0.12% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 5 0.03% 3 0.02% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 30.02% UVEA IRIS / CILIARY BODY CYSTS 1 0.01% 8 0.06% IRIS COLOBOMA 10 0.07% 9 0.07% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 460 3.09% 606 4.49% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 55 0.37% 40 0.30% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 64 0.43% 88 0.65% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 5 0.03% 24 0.18% ENDOTHELIAL PIGMENT/NO PPM 40.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 200 1.35% 163 1.21% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 20 0.13% ANTERIOR CORTEX PUNCTATE* 32 0.22% 26 0.19% ANTERIOR CORTEX INTERMEDIATE* 45 0.30% 60 0.44% ANTERIOR CORTEX DIFFUSE* 4 0.03% 2 0.01% ANTERIOR CORTEX SUSPICIOUS 2 0.01% ANT. CORTEX PUNCT. SIGN. UNKNOWN 69 0.46% 87 0.64% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 17 0.11% POSTERIOR CORTEX PUNCTATE* 28 0.19% 19 0.14% POSTERIOR CORTEX INTERMEDIATE* 33 0.22% 44 0.33% POSTERIOR CORTEX DIFFUSE* 4 0.03% 3 0.02% POSTERIOR CORTEX SUSPICIOUS 3 0.02% POST. CORTEX PUNCT. SIGN. UNKNOWN 27 0.18% 33 0.24% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 8 0.05% EQUATORIAL CORTEX PUNCTATE* 13 0.09% 12 0.09% EQUATORIAL CORTEX INTERMEDIATE* 19 0.13% 26 0.19% EQUATORIAL CORTEX DIFFUSE* 2 0.01% 1 0.01%

SHETLAND SHEEPDOG

1991 - 1999 2000-2007 EQUATORIAL CORTEX SUSPICIOUS 1 0.01% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 7 0.05% 15 0.11% ANTERIOR SUTURES PUNCTATE* 1 0.01% 2 0.01% ANTERIOR SUTURES INTERMEDIATE* 3 0.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 0.04% 5 0.04% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.03% POSTERIOR SUTURES PUNCTATE* 2 0.01% 2 0.01% POSTERIOR SUTURES INTERMEDIATE* 9 0.06% 2 0.01% POSTERIOR SUTURES SUSPICIOUS 1 0.01% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 16 0.11% 9 0.07% NUCLEUS (SIZE UNSPECIFIED)* 5 0.03% NUCLEUS PUNCTATE* 6 0.04% 7 0.05% NUCLEUS INTERMEDIATE* 15 0.10% 12 0.09% NUCLEUS DIFFUSE* 2 0.01% 2 0.01% NUCLEUS PUNCTATE SIGN. UNKNOWN 23 0.15% 23 0.17% ANTERIOR CAPSULE 9 0.06% ANTERIOR CAPSULE SIGN. UNKNOWN 4 0.03% CAPSULAR PUNCTATE 1 0.01% 11 0.08% CAPSULAR INTERMEDIATE 2 0.01% 17 0.13% CAPSULAR DIFFUSE 30.02% CAPSULAR SIGN. UNKNOWN 7 0.05% 66 0.49% POSTERIOR CAPSULE 9 0.06% POSTERIOR CAPSULE SIGN. UNKNOWN 6 0.04% POSTERIOR CAPSULE SUSPICIOUS 1 0.01% GENERALIZED CATARACT* 6 0.04% 8 0.06% GENERALIZED SUSPICIOUS 1 0.01% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.01% SUBLUXATION/LUXATION 3 0.02% 2 0.01% VITREOUS PERSISTENT HYALOID ARTERY 45 0.30% 39 0.29% PHPV/PTVL 5 0.03% 8 0.06% DEGENERATION (NO FURTHER SPECIFICATION) 33 0.22% 28 0.21% DEGENERATION ANTERIOR CHAMBER 20.01% DEGENERATION SYNERESIS 15 0.11% FUNDUS RETINAL ATROPHY--GENERALIZED 18 0.12% 36 0.27% RETINAL ATROPHY--CENTRAL 1 0.01% RETINAL ATROPHY--SUSPICIOUS 70 0.47% 42 0.31% RETINAL DYSPLASIA FOCAL/FOLDS 29 0.20% 35 0.26% RETINAL DYSPLASIA GEOGRAPHIC 9 0.06% 6 0.04% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.01% 2 0.01% CHOROIDAL HYPOPLASIA 53 0.36% 42 0.31% STAPHYLOMA / COLOBOMA 53 0.36% 21 0.16% RETINAL DETACHMENT 8 0.05% 6 0.04% OPTIC NERVE COLOBOMA 104 0.70% 69 0.51% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 19 0.13% OPTIC NERVE HYPOPLASIA 40.03% MICROPAPILLA 2 0.01% 6 0.04%

SHETLAND SHEEPDOG

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 116 0.78% 38 0.28% OTHER, NON -INHERITED 22 0.15% 466 3.45% NORMAL NORMAL 12221 82.22% 11697 86.61%

SHIBA INU

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Persistent pupillary membrane - iris to iris Not defined 1,3 Breeder option - all other forms Not defined 3 NO

C. Corneal dystrophy- Not defined 2,3 Breeder option epithelial/stromal

D. Exposure keratopathy Not defined 4 Breeder option syndrome/ Pigmentary keratitis

E. Cataract Not defined 1 NO

F. Vitreous Not defined 3 Breeder option degeneration

G. Pectinate ligament Not defined 5 Breeder option dysplasia and narrowing iridocorneal angle

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Persistent pupillary membrane (PPM)

C. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

D. Exposure keratopathy syndrome / Pigmentary keratitis

E. Cataract

F. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness.

G. Pectinate ligament dysplasia and narrowing iridocorneal angle

Pectinate ligament dysplasia is a congenital malformation (lack of adequate tissue rarefaction) of the tissue in the iridocorneal angle destined to form the pectinate ligament with a corresponding decrease in the resultant outflow spaces within the ligament. Narrowing of the iridocorneal angle represents a frequently progressive collapse of the space or angle in which the pectinate ligament rests at the base of the iris and the peripheral cornea. These anatomical abnormalities may predispose the Shiba Inu to the development of glaucoma.

References

There are few references providing detailed descriptions of hereditary ocular conditions of the Shiba Inu breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. Kato K, Sasaki N, Matsunaga S, Mochizuki M, Nishimura R, Ogawa H: Possible association of glaucoma with pectinate ligament dysplasia and narrowing of the iridocorneal angle in Shiba Inu dogs in Japan. Vet Ophthalmol 9:71-75, 2006.

SHIBA INU

1991 - 1999 2000-2007 TOTAL NUMBER OF SHIBA INU EXAMINED 1221 1719

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 4 0.33% 6 0.35% DISTICHIASIS 25 2.05% 41 2.39% ECTOPIC CILIA 20.12% EURY/MACRO BLEPHARON 2 0.16% 4 0.23% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 14 1.15% 13 0.76% DYSTROPHY--ENDOTHELIAL 8 0.66% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 3 0.25% 1 0.06% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.08% 5 0.29% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 36 2.95% 71 4.13% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 6 0.49% 8 0.47% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.08% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 37 3.03% 41 2.39% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.08% ANTERIOR CORTEX PUNCTATE* 30.17% ANTERIOR CORTEX INTERMEDIATE* 5 0.41% 14 0.81% ANTERIOR CORTEX DIFFUSE* 2 0.16% 1 0.06% ANTERIOR CORTEX SUSPICIOUS 1 0.08% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 0.41% 10 0.58% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.16% POSTERIOR CORTEX PUNCTATE* 7 0.57% 3 0.17% POSTERIOR CORTEX INTERMEDIATE* 8 0.66% 6 0.35% POSTERIOR CORTEX DIFFUSE* 2 0.16% 1 0.06% POSTERIOR CORTEX SUSPICIOUS 1 0.08% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.16% 5 0.29% EQUATORIAL CORTEX PUNCTATE* 30.17% EQUATORIAL CORTEX INTERMEDIATE* 2 0.16% 5 0.29% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.16% 1 0.06% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.08% ANTERIOR SUTURES PUNCTATE* 20.12% ANTERIOR SUTURES INTERMEDIATE* 10.06% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.16% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 3 0.25% POSTERIOR SUTURES PUNCTATE* 7 0.57% 7 0.41% POSTERIOR SUTURES INTERMEDIATE* 3 0.25% 5 0.29% POSTERIOR SUTURES DIFFUSE* 1 0.08% POSTERIOR SUTURES SUSPICIOUS 1 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20 1.64% 49 2.85% NUCLEUS INTERMEDIATE* 10.06% NUCLEUS DIFFUSE* 10.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.41% CAPSULAR PUNCTATE 10.06%

SHIBA INU

1991 - 1999 2000-2007 CAPSULAR INTERMEDIATE 10.06% CAPSULAR SIGN. UNKNOWN 4 0.33% 9 0.52% POSTERIOR CAPSULE 2 0.16% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.08% POSTERIOR CAPSULE SUSPICIOUS 1 0.08% GENERALIZED CATARACT* 4 0.33% 2 0.12% SUBLUXATION/LUXATION 30.17% VITREOUS PERSISTENT HYALOID ARTERY 4 0.33% 10 0.58% PHPV/PTVL 20.12% DEGENERATION (NO FURTHER SPECIFICATION) 9 0.74% 11 0.64% DEGENERATION ANTERIOR CHAMBER 10.06% DEGENERATION SYNERESIS 30.17% FUNDUS RETINAL ATROPHY--GENERALIZED 3 0.25% 6 0.35% RETINAL ATROPHY--SUSPICIOUS 6 0.49% 8 0.47% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.33% RETINAL DYSPLASIA GEOGRAPHIC 2 0.16% RETINAL DETACHMENT 10.06% RETINAL HEMORRHAGE 10.06% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 3 0.25% 1 0.06% OPTIC NERVE HYPOPLASIA 20.12% OTHER OTHER, INHERITED 11 0.90% 10 0.58% OTHER, NON -INHERITED 7 0.57% 83 4.83% NORMAL NORMAL 1018 83.37% 1466 85.28%

SHIH TZU

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Ectopic cilia Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Eury/Macroblepharon Not defined 7 Breeder option

E. Ciliated caruncle Not defined 1 Breeder option

F. Keratoconjunctivitis Not defined 1,6 NO sicca (dry eye)

G. Corneal dystrophy Not defined 4 Breeder option - epithelial/stromal

H. Chronic superficial Not defined 4 Breeder option keratitis/pannus

I. Exposure keratopathy Not defined 1 Breeder option syndrome/ macroblepharon

J. Cataract Not defined 1 NO

K. Vitreous Not defined 1,2 Breeder option degeneration

L. Retinal atrophy Not defined 1 NO - generalized

M. Retinal detachment Not defined 2,5 NO

N. Retinal degeneration Not defined 5 NO

O. Optic nerve Not defined 3 NO hypoplasia

P. Optic nerve- Not defined 3 Breeder option micropapilla

Description and Comments

A. Distichiasis

B. Ectopic cilia

Hair emerging through the eyelid conjunctiva. Ectopic cilia occur more frequently in younger dogs and cause discomfort and corneal disease.

C. Entropion

D. Eury/Macroblepharon

E. Ciliated caruncle

The caruncle is a normal structure (a mass of fleshy conjunctival tissue at the nasal canthus). In abnormal conditions, it may contain hair which, if contacting the cornea, may cause irritation and/or tearing.

F. Keratoconjunctivitis sicca (KCS)/dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

G. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

H. Chronic superficial keratitis/pannus

I. Exposure keratopathy syndrome/macroblepharon

A corneal disease involving all or part of the cornea, resulting from inadequate blinking. This results from a combination of anatomic features including shallow orbits, exophthalmos, macroblepharon and lagophthalmos. Macroblepharon is defined as an exceptionally large palpebral fissure. When present with laxity of the lateral canthal structures, this condition may lead to lower lid ectropion and upper lid entropion. Either of these conditions may lead to severe ocular irritation.

J. Cataract

K. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment, which results in blindness when complete.

L. Retinal atrophy-generalized

M. Retinal detachment A separation of the sensory retina from the underlying tissue. It results in blindness when complete.

N. Retinal degeneration

appear active (local infiltrative inflammation or granulation) or inactive. The lesions can progress resulting in widespread retinal atrophy. The end-stage ophthalmoscopic lesions vary and may appear indistinguishable from PRA, or may be more characteristic of an inflammatory retinopathy. The asymmetry of the fundus abnormalities and the presence of inflammatory lesions in the retina and choroid help to differentiate this disorder from PRA. The mode of inheritance of this disease is not known; however, studies of different families suggest that it is possibly inherited. An intriguing aspect of the disease has been the preponderance of affected males compared to females. This has been confirmed in a recent unpublished survey.

O. Optic nerve hypoplasia

P. Optic nerve- micropapilla

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

2. Hendrix D.V., Nasisse MP, Cowen P, Davidson MG: Clinical signs, concurrent diseases and risk factors associated with retinal detachment in dogs. Prog Vet Comp Ophthal 3:87, 1993.

3. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

4. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

5. Yamasaki A, Machara S, Wakaiki S, Tsuzuki K, Izumisawa Y: Examination of fellow eye in unilateral retinal detachment in the Shih Tzu . Abstract #65. Vet Ophthalmol 9:425, 2006.

6. Sanchez RF, Innocent G, Mould J, Billson FM: Canine keratoconjunctivitis sicca: disease trends in a review. JSmall Anim Practi 48:211-217, 2007.

7. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

SHIH TZU

1991 - 1999 2000-2007 TOTAL NUMBER OF SHIH TZU EXAMINED 1038 762

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.10% 3 0.39% DRY EYE 2 0.19% 1 0.13% EYELIDS ENTROPION 48 4.62% 54 7.09% ECTROPION 3 0.29% 1 0.13% DISTICHIASIS 219 21.10% 143 18.77% ECTOPIC CILIA 11 1.06% 23 3.02% EURY/MACRO BLEPHARON 18 1.73% 32 4.20% THIRD EYELID CARTILAGE ANOMALY/EVERSION 1 0.10% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 3 0.29% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 9 0.87% 14 1.84% DYSTROPHY--ENDOTHELIAL 20.26% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 16 1.54% 8 1.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 53 5.11% 30 3.94% UVEA IRIS / CILIARY BODY CYSTS 40.52% IRIS COLOBOMA 1 0.10% 2 0.26% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 4 0.39% 7 0.92% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.10% 1 0.13% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.10% ENDOTHELIAL PIGMENT/NO PPM 10.13% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 41 3.95% 42 5.51% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.39% ANTERIOR CORTEX PUNCTATE* 7 0.67% 6 0.79% ANTERIOR CORTEX INTERMEDIATE* 8 0.77% 10 1.31% ANTERIOR CORTEX DIFFUSE* 2 0.19% ANT. CORTEX PUNCT. SIGN. UNKNOWN 6 0.58% 5 0.66% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.10% POSTERIOR CORTEX PUNCTATE* 1 0.10% 3 0.39% POSTERIOR CORTEX INTERMEDIATE* 7 0.67% 9 1.18% POSTERIOR CORTEX DIFFUSE* 1 0.10% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.39% 2 0.26% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 3 0.29% EQUATORIAL CORTEX PUNCTATE* 10.13% EQUATORIAL CORTEX INTERMEDIATE* 4 0.39% 5 0.66% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.10% 1 0.13% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.10% ANTERIOR SUTURES INTERMEDIATE* 10.13% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.26% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.39% POSTERIOR SUTURES PUNCTATE* 2 0.19% 7 0.92%

SHIH TZU

1991 - 1999 2000-2007 POSTERIOR SUTURES INTERMEDIATE* 1 0.10% 4 0.52% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.10% 4 0.52% NUCLEUS (SIZE UNSPECIFIED)* 1 0.10% NUCLEUS PUNCTATE* 1 0.10% NUCLEUS INTERMEDIATE* 3 0.29% 3 0.39% NUCLEUS DIFFUSE* 20.26% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.29% ANTERIOR CAPSULE 1 0.10% CAPSULAR PUNCTATE 20.26% CAPSULAR INTERMEDIATE 20.26% CAPSULAR SIGN. UNKNOWN 2 0.19% 3 0.39% CAPSULAR INTERMEDIATE SIGN. UNKNOWN 10.13% POSTERIOR CAPSULE 1 0.10% GENERALIZED CATARACT* 11 1.06% 7 0.92% SUBLUXATION/LUXATION 2 0.19% 2 0.26% VITREOUS PERSISTENT HYALOID ARTERY 3 0.29% 1 0.13% DEGENERATION (NO FURTHER SPECIFICATION) 34 3.28% 44 5.77% DEGENERATION ANTERIOR CHAMBER 91.18% DEGENERATION SYNERESIS 11 1.44% FUNDUS RETINAL ATROPHY--GENERALIZED 14 1.35% 7 0.92% RETINAL ATROPHY--SUSPICIOUS 11 1.06% 5 0.66% RETINAL DYSPLASIA FOCAL/FOLDS 5 0.48% 1 0.13% RETINAL DYSPLASIA GEOGRAPHIC 20.26% CHOROIDAL HYPOPLASIA 10.13% STAPHYLOMA / COLOBOMA 1 0.10% 1 0.13% RETINAL DETACHMENT 4 0.39% 5 0.66% OPTIC NERVE COLOBOMA 2 0.19% 2 0.26% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 8 0.77% OPTIC NERVE HYPOPLASIA 20.26% OTHER OTHER, INHERITED 26 2.50% 20 2.62% OTHER, NON -INHERITED 9 0.87% 74 9.71% NORMAL NORMAL 630 60.69% 446 58.53%

SHILOH SHEPHERD

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy- Not defined 1 Breeder option epithelial/stromal

Description and Comments

A. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Shiloh shepherd breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

SHILOH SHEPHERD

1991 - 1999 2000-2007 TOTAL NUMBER OF SHILOH SHEPHERD EXAMINED 9 110

Diagnosic Name Number Percent Number Percent CORNEA DYSTROPHY--EPITHELIAL/STROMAL 4 44.44% 13 11.82% UVEA IRIS / CILIARY BODY CYSTS 10.91% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 21.82% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10.91% ANT. CORTEX PUNCT. SIGN. UNKNOWN 21.82% POSTERIOR CORTEX INTERMEDIATE* 10.91% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.91% CAPSULAR PUNCTATE 10.91% CAPSULAR SIGN. UNKNOWN 32.73% GENERALIZED CATARACT* 10.91% OTHER OTHER, NON -INHERITED 32.73% NORMAL NORMAL 5 55.56% 95 86.36%

SIBERIAN HUSKY

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1,6,14,17 NO

B. Distichiasis Not defined 1 Breeder option

C. Entropion Not defined 1 Breeder option

D. Corneal dystrophy Presumed 1-5,14 NO - epithelial/stromal autosomal recessive

E. Persistent pupillary Not defined 16,18 Breeder option membranes - iris to iris

F. Uveodermatologic Not defined 1,7-9 NO syndrome

G. Uveitis Not defined 1,7,8 Breeder option

H. Cataract Not defined 1,14 NO

I. Persistent Not defined 15 NO hyperplastic primary vitreous

J. Retinal atrophy Presumed 1,10-13 NO - generalized X-linked

Description and Comments

A. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

B. Distichiasis

C. Entropion

D. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

In the Siberian Husky, the opacities are bilaterally symmetrical, round to oval and ring shaped. They occur early in life (0.5-2 years) and may progress to cause significant vision loss.

E. Persistent pupillary membranes (PPM)

F. Uveodermatologic syndrome

Uveodermatologic syndrome in the Siberian husky bears many similarities to a condition in people called Vogt-Koyanagi-Harada (or VKH) syndrome. Thus, the condition in dogs is often referred to as VKH or VKH-like syndrome. It is an immune-mediated disease in which pigmented cells (melanocytes) in the eye and in the skin are destroyed by white blood cells (lymphocytes). The first clinical signs are usually inflammation of the intraocular structures (or uveitis) in both eyes. Adhesions between the iris and lens (posterior synechia) and the peripheral iris and cornea (peripheral anterior synechia) develop rapidly. Other complications include cataract development, retinal degeneration, retinal separation or detachment, optic disc atrophy and secondary glaucoma. The uveitis is very difficult to control medically and ultimately results in blindness in most affected dogs. Whitening of the hair (poliosis) and skin (vitiligo) may also be noted in advanced cases. The genetics of this condition are unclear, but some genetic predisposition is indicated by the higher prevalence of this disorder in Siberian huskies compared with other dog breeds. Affected dogs are generally young, ranging in age between 1 ½ to 4 years.

G. Uveitis (without vitiligo or poliosis)

An inflammation of the uveal tract (iris, ciliary body, choroid). May be caused by infectious agents or may be immune-mediated. There are syndromes of immune-mediated uveitis associated with facial skin depigmentation (uveodermatologic syndrome, item “D” above). With any form of uveitis, adhesions may develop between the iris and lens (posterior synechia) and the peripheral iris and cornea (peripheral anterior synechia). Other complications include secondary cataract and glaucoma. Some veterinary ophthalmologists feel that uveitis without skin or hair depigmentation may occur with greater frequency in the Siberian Husky than in most other breeds. At this time, adequate documentation is lacking.

H. Cataract

In the Siberian husky, cataracts begin in the axial posterior cortex at approximately one year of age. Progression is variable and vision impairment may occur. In cases with rapid progression, secondary lens-induced uveitis and glaucoma may be associated with partial cataract resorption.

I. Persistent hyperplastic primary vitreous (PHPV)

J. Retinal atrophy- generalized

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Waring GO, et al: Oval lipid corneal opacities in beagles and crystalline lipid corneal opacities in Siberian Huskies. Metab Pediatr Ophthalmol 3: 203, 1979.

3. Waring GO et al: Inheritance of crystalline corneal dystrophy in Siberian Huskies. J Am Anim Hosp Assoc 22:655, 1986.

4. MacMillan A, et al: Crystalline corneal opacities in the Siberian husky. J Am Vet Med Assoc 175:829, 1979.

5. Cooley, PL, Dice DF. Corneal dystrophy in the dog and cat. Vet Clin No Am Small An Pract 20:681, 1990.

6. Slater, MR, Erb, HN: Effects of risk factors and prophylactic treatment on primary glaucoma in the dog. J Am Vet Med Assoc 188:1028, 1986.

7. Kern, TJ et al.: Uveitis associated with poliosis and vitiligo in six dogs. J Am Vet Med Assoc 187:408, 1985.

8. Halliwell REW: Autoimmune diseases in domestic animals. J Am Vet Med Assoc 181:1088, 1982.

9. Bussanich MN et al: Granulomatous panuveitis and dermal depigmentation in dogs. J Am Anim Hosp Assoc 18:131, 1982.

10. Acland GM, Blanton SH, Hershfield B, et al: XLPRA: An X-linked form of progressive retinal atrophy in Siberian husky dogs. Proc Am Coll Vet Ophthalmol 24:37, 1993.

11. Acland GM, Blanton SH, Hershfield B, et al: XLPRA: a canine retinal degeneration inherited as an x-linked trait. Am J Med Genet 52:27, 1994.

12. Aquirre GD, Acland GM: Electroretinographic studies in XLPRA: A canine model of x-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci (Suppl) 35:1611, 1994.

13. Hershfield B, Micklethwaite C. Mullings SJ, et al: RLFP mapping of x-linked progressive retinal atrophy (XLPRA) in the Siberian husky. Invest Ophthalmol Vis Sci (Suppl) 35:1612, 1994.

14. Stanley RG, Blogg JR. Eye diseases in Siberian Husky dogs. Aust Vet J 68:161, 1991

15. Ori J, Yoshika T, Yoshimura S, et al. Persistent hyperplastic primary vitreous (PHPV) in two Siberian Husky dogs. J Vet Med Sci 60:263, 1998.

16. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

17. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Vet Ophthal 2:97, 2004.

18. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

SIBERIAN HUSKY

1991 - 1999 2000-2007 TOTAL NUMBER OF SIBERIAN HUSKY EXAMINED 16961 11033

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 5 0.03% 2 0.02% DRY EYE 1 0.01% GLAUCOMA 10 0.06% 2 0.02% EYELIDS ENTROPION 12 0.07% 5 0.05% ECTROPION 4 0.02% DISTICHIASIS 162 0.96% 104 0.94% ECTOPIC CILIA 2 0.01% EURY/MACRO BLEPHARON 1 0.01% THIRD EYELID GLAND PROLAPSE 1 0.01% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 1 0.01% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 502 2.96% 298 2.70% DYSTROPHY--ENDOTHELIAL 21 0.12% 9 0.08% DERMOID 4 0.02% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 11 0.06% 8 0.07% UVEA IRIS / CILIARY BODY CYSTS 3 0.02% 10 0.09% IRIS COLOBOMA 4 0.02% 1 0.01% IRIS HYPOPLASIA/SPHINCTER DYSPLASIA 10.01% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 284 1.67% 304 2.76% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10 0.06% 10 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 26 0.15% 10 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 2 0.01% 3 0.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1329 7.84% 617 5.59% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 33 0.19% ANTERIOR CORTEX PUNCTATE* 19 0.11% 19 0.17% ANTERIOR CORTEX INTERMEDIATE* 50 0.29% 42 0.38% ANTERIOR CORTEX DIFFUSE* 9 0.05% 12 0.11% ANTERIOR CORTEX SUSPICIOUS 8 0.05% ANT. CORTEX PUNCT. SIGN. UNKNOWN 94 0.55% 61 0.55% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 283 1.67% POSTERIOR CORTEX PUNCTATE* 74 0.44% 47 0.43% POSTERIOR CORTEX INTERMEDIATE* 584 3.44% 413 3.74% POSTERIOR CORTEX DIFFUSE* 158 0.93% 52 0.47% POSTERIOR CORTEX SUSPICIOUS 32 0.19% POST. CORTEX PUNCT. SIGN. UNKNOWN 39 0.23% 22 0.20% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 28 0.17% EQUATORIAL CORTEX PUNCTATE* 17 0.10% 6 0.05% EQUATORIAL CORTEX INTERMEDIATE* 28 0.17% 24 0.22% EQUATORIAL CORTEX DIFFUSE* 13 0.08% 7 0.06% EQUATORIAL CORTEX SUSPICIOUS 1 0.01%

SIBERIAN HUSKY

1991 - 1999 2000-2007 EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 16 0.09% 17 0.15% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 4 0.02% ANTERIOR SUTURES PUNCTATE* 4 0.02% 3 0.03% ANTERIOR SUTURES INTERMEDIATE* 7 0.04% 7 0.06% ANTERIOR SUTURES DIFFUSE* 1 0.01% 1 0.01% ANTERIOR SUTURES SUSPICIOUS 3 0.02% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 9 0.05% 7 0.06% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 37 0.22% POSTERIOR SUTURES PUNCTATE* 50 0.29% 25 0.23% POSTERIOR SUTURES INTERMEDIATE* 137 0.81% 81 0.73% POSTERIOR SUTURES DIFFUSE* 22 0.13% 6 0.05% POSTERIOR SUTURES SUSPICIOUS 14 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 23 0.14% 16 0.15% NUCLEUS (SIZE UNSPECIFIED)* 32 0.19% NUCLEUS PUNCTATE* 6 0.04% 6 0.05% NUCLEUS INTERMEDIATE* 38 0.22% 30 0.27% NUCLEUS DIFFUSE* 29 0.17% 13 0.12% NUCLEUS PUNCTATE SIGN. UNKNOWN 39 0.23% 18 0.16% ANTERIOR CAPSULE 4 0.02% ANTERIOR CAPSULE SIGN. UNKNOWN 15 0.09% ANTERIOR CAPSULE SUSPICIOUS 3 0.02% CAPSULAR PUNCTATE 5 0.03% 13 0.12% CAPSULAR INTERMEDIATE 8 0.05% 38 0.34% CAPSULAR DIFFUSE 90.08% CAPSULAR SIGN. UNKNOWN 16 0.09% 58 0.53% POSTERIOR CAPSULE 135 0.80% POSTERIOR CAPSULE SIGN. UNKNOWN 19 0.11% POSTERIOR CAPSULE SUSPICIOUS 17 0.10% GENERALIZED CATARACT* 58 0.34% 23 0.21% GENERALIZED SIGNIFICANTS UNKNOWN 1 0.01% SUBLUXATION/LUXATION 11 0.06% VITREOUS PERSISTENT HYALOID ARTERY 25 0.15% 15 0.14% PHPV/PTVL 1 0.01% 3 0.03% DEGENERATION (NO FURTHER SPECIFICATION) 14 0.08% 7 0.06% DEGENERATION SYNERESIS 40.04% FUNDUS RETINAL ATROPHY--GENERALIZED 21 0.12% 33 0.30% RETINAL ATROPHY--CENTRAL 1 0.01% RETINAL ATROPHY--SUSPICIOUS 36 0.21% 32 0.29% RETINAL DYSPLASIA FOCAL/FOLDS 41 0.24% 24 0.22% RETINAL DYSPLASIA GEOGRAPHIC 17 0.10% 14 0.13% RETINAL DYSPLASIA GENERALIZED/DETACHED 4 0.02% 2 0.02% CHOROIDAL HYPOPLASIA 21 0.12% 15 0.14% STAPHYLOMA / COLOBOMA 8 0.05% 5 0.05% RETINAL DETACHMENT 12 0.07% 6 0.05% RETINAL HEMORRHAGE 6 0.04% 1 0.01% OPTIC NERVE COLOBOMA 1 0.01% 2 0.02% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 6 0.04%

SIBERIAN HUSKY

1991 - 1999 2000-2007 OPTIC NERVE HYPOPLASIA 10.01% MICROPAPILLA 20.02% OTHER OTHER, INHERITED 175 1.03% 45 0.41% OTHER, NON -INHERITED 57 0.34% 601 5.45% NORMAL NORMAL 14127 83.29% 9462 85.76%

SILKY TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Corneal dystrophy Not defined 1,4 Breeder option - epithelial/stromal

B. Persistent pupillary Not defined 1,4 Breeder option membranes- - iris to iris

C. Cataract Not defined 1-4 NO

D. Vitreous Not defined 2,4 Breeder option degeneration

E. Retinal atrophy Presumed 5 NO - generalized (prcd) autosomal recessive

Description and Comments

A. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

B. Persistent pupillary membranes (PPM)

C. Cataract

D. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

E. Retinal atrophy-generalized (prcd)

References

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

3. Gelatt KN, MacKay EO: Prevalence of primary breed-related cataracts in the dog in North America. Vet Ophth 8(2): 101, 2005.

4. ACVO Genetics Committee, 2005 and/or data from CERF All-Breeds report, 2003-2004.

SILKY TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF SILKY TERRIER EXAMINED 151 240

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 10.42% DISTICHIASIS 1 0.66% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 7 4.64% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 10 6.62% 21 8.75% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.66% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 1.32% 1 0.42% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 15 9.93% 21 8.75% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.66% ANTERIOR CORTEX PUNCTATE* 52.08% ANTERIOR CORTEX INTERMEDIATE* 3 1.99% 6 2.50% ANTERIOR CORTEX DIFFUSE* 2 1.32% ANT. CORTEX PUNCT. SIGN. UNKNOWN 2 1.32% 8 3.33% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.66% POSTERIOR CORTEX PUNCTATE* 1 0.66% 2 0.83% POSTERIOR CORTEX INTERMEDIATE* 4 2.65% 8 3.33% POSTERIOR CORTEX DIFFUSE* 2 1.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.66% 1 0.42% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 1.32% EQUATORIAL CORTEX PUNCTATE* 2 1.32% 1 0.42% EQUATORIAL CORTEX INTERMEDIATE* 20.83% EQUATORIAL CORTEX DIFFUSE* 1 0.66% 1 0.42% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 20.83% ANTERIOR SUTURES INTERMEDIATE* 10.42% ANTERIOR SUTURES DIFFUSE* 1 0.66% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.66% POSTERIOR SUTURES INTERMEDIATE* 1 0.66% 1 0.42% POSTERIOR SUTURES DIFFUSE* 1 0.66% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 31.25% NUCLEUS PUNCTATE* 10.42% NUCLEUS DIFFUSE* 2 1.32% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.66% 1 0.42% CAPSULAR INTERMEDIATE 10.42% CAPSULAR SIGN. UNKNOWN 20.83% GENERALIZED CATARACT* 8 5.30% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 5 3.31% 4 1.67% DEGENERATION ANTERIOR CHAMBER 20.83% DEGENERATION SYNERESIS 41.67% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.66% 3 1.25% RETINAL ATROPHY--SUSPICIOUS 1 0.66% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.66% 2 0.83%

SILKY TERRIER

1991 - 1999 2000-2007 RETINAL DYSPLASIA GEOGRAPHIC 10.42% CHOROIDAL HYPOPLASIA 10.42% RETINAL DETACHMENT 1 0.66% MICROPAPILLA 10.42% OTHER OTHER, INHERITED 1 0.66% OTHER, NON -INHERITED 21 8.75% NORMAL NORMAL 111 73.51% 176 73.33%

SLOUGHI (Arabian Greyhound/North African SightHound)

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A Progressive Autosomal 1,2 NO retinal atrophy recessive (rcd1a) / Generalized retinal degeneration

Description and Comments

A. Progressive Retinal Atrophy/Generalized retinal degeneration

A late onset degenerative disease of the retinal visual cells with visual deficits detectable at 2 to 3 years of age and which progresses to blindness. This abnormality may be detected by electroretinogram (not part of a routine eye screening examination) before it is apparent clinically. It is inherited as an autosomal recessive trait. The disease is due to an 8-bp insertion in exon 21 of the PDE6B gene referred to as rcd1a, as occurs in the Irish Setter.

For DNA testing contact Optigen®: rcd1a-PRA test. Optigen LLC, Cornell Business and Technology Park, 33 Thornwood Dr., Suite 102, Ithaca, NY 14850. Telephone: 607-257- 0301. E-mail: [email protected] : website: www.optigen.com.

For DNA testing also contact: Animal Health Trust (UK): website: www.aht.org.uk.

References

1. Brahm, R., et al: Retinal Degeneration in the Sloughi Dog and diagnosed by direct DNA- Test. EVCO Proceedings 2001.

2. Dekomien G., et al: Generalized progressive retinal atrophy in Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90, 261-267, 2000.

SMOOTH FOX TERRIER*

*The smooth fox terrier and the wire fox terrier were originally considered two varieties of the same breed. They became separate breeds in 1985. It is likely that the same genetic diseases exist in both breeds

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1,2 NO

B. Persistent pupillary Not defined 7 Breeder option membranes- iris to iris

C. Cataract Not defined 1 NO

D. Lens luxation Not defined 1,3-6 NO

Description and Comments

A. Glaucoma

B. Persistent pupillary membranes (PPM)

C. Cataract

The cataracts observed in the Smooth Fox terrier begin in the posterior subcapsular region and are progressive.

D. Lens luxation

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Martin CL, Wyman M: Primary glaucoma in the dog. Vet Clin North Amer 8:257, 1978.

3. Formston C: Observations on subluxation and luxation of the crystalline lens in the dog. J Comp Pathol 55:168, 1945.

4. Lawson DD: Luxation of the crystalline lens in the dog. J Small Anim Pract 10:461, 1969.

5. Curtis R, Barnett KC: Primary lens luxation in the dog. J Small Anim Pract 21:657, 1980.

6. Hodgman SFJ: Abnormalities and defects in pedigree dogs. I. An investigation into abnormalities in pedigree dogs in the British Isles. J Small Anim Pract 4:447, 1963.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004

SMOOTH FOX TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF SMOOTH FOX TERRIER EXAMINED 76 130

Diagnosic Name Number Percent Number Percent UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 2.63% 6 4.62% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 2.63% 1 0.77% ANTERIOR CORTEX INTERMEDIATE* 1 1.32% POSTERIOR CORTEX INTERMEDIATE* 1 1.32% NUCLEUS PUNCTATE SIGN. UNKNOWN 10.77% CAPSULAR SIGN. UNKNOWN 10.77% GENERALIZED CATARACT* 10.77% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 32.31% FUNDUS RETINAL ATROPHY--SUSPICIOUS 10.77% RETINAL DYSPLASIA FOCAL/FOLDS 10.77% OTHER OTHER, NON -INHERITED 53.85% NORMAL NORMAL 72 94.74% 115 88.46%

SOFT-COATED WHEATEN TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia with Not defined 2 NO multiple ocular defects

B. Distichiasis Not defined 1 Breeder option

C. Corneal dystrophy Not defined 3 Breeder option -epithelial/stromal

D. Persistent pupillary membranes iris to iris Not defined 1,2,3 Breeder option all other forms Not defined 3 NO

E. Cataract Not defined 1,2 NO

F Persistent hyaloid Not defined 1,2 Breeder option artery

G. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Microphthalmia with multiple ocular defects

Microphthalmia is a congenital defect characterized by a small eye often associated with defects of the cornea, iris (coloboma), anterior chamber, lens (cataract) and/or retina (retinal dysplasia).

B. Distichiasis

C. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Persistent hyaloid artery (PHA)

G. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Van der Woerdt, A, et al: Multiple ocular anomalies in two related litters of soft coated wheaten terriers. Prog Vet Comp Ophthal 5:78, 1995.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

SOFT COATED WHEATEN TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF SOFT COATED WHEATEN TERRIER 3101 2587 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 2 0.06% EYELIDS ENTROPION 1 0.03% DISTICHIASIS 46 1.48% 37 1.43% EURY/MACRO BLEPHARON 1 0.03% NASOLACRIMAL PUNCTA SMALL, ABSENT,IMPERFORATE 6 0.19% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 21 0.68% 24 0.93% UVEA IRIS / CILIARY BODY CYSTS 90.35% IRIS COLOBOMA 1 0.03% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 62 2.00% 103 3.98% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 4 0.13% 13 0.50% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.03% 1 0.04% ENDOTHELIAL PIGMENT/NO PPM 10.04% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 66 2.13% 58 2.24% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.23% ANTERIOR CORTEX PUNCTATE* 8 0.26% 11 0.43% ANTERIOR CORTEX INTERMEDIATE* 8 0.26% 9 0.35% ANTERIOR CORTEX DIFFUSE* 3 0.10% 1 0.04% ANTERIOR CORTEX SUSPICIOUS 1 0.03% ANT. CORTEX PUNCT. SIGN. UNKNOWN 39 1.26% 69 2.67% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 4 0.13% POSTERIOR CORTEX PUNCTATE* 3 0.10% 5 0.19% POSTERIOR CORTEX INTERMEDIATE* 10 0.32% 14 0.54% POSTERIOR CORTEX DIFFUSE* 1 0.03% 3 0.12% POST. CORTEX PUNCT. SIGN. UNKNOWN 4 0.13% 14 0.54% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 3 0.10% EQUATORIAL CORTEX PUNCTATE* 2 0.06% 7 0.27% EQUATORIAL CORTEX INTERMEDIATE* 11 0.35% 5 0.19% EQUATORIAL CORTEX SUSPICIOUS 1 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10 0.32% 7 0.27% ANTERIOR SUTURES PUNCTATE* 2 0.06% 1 0.04% ANTERIOR SUTURES INTERMEDIATE* 1 0.03% ANTERIOR SUTURES SUSPICIOUS 1 0.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 5 0.16% 15 0.58% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.03% POSTERIOR SUTURES PUNCTATE* 1 0.03% 1 0.04% POSTERIOR SUTURES INTERMEDIATE* 8 0.26% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.06% 9 0.35% NUCLEUS PUNCTATE* 1 0.03% 2 0.08% NUCLEUS INTERMEDIATE* 5 0.16% 7 0.27%

SOFT COATED WHEATEN TERRIER

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 3 0.10% 11 0.43% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.03% 7 0.27% ANTERIOR CAPSULE 2 0.06% ANTERIOR CAPSULE SIGN. UNKNOWN 4 0.13% CAPSULAR PUNCTATE 1 0.03% 8 0.31% CAPSULAR INTERMEDIATE 10 0.39% CAPSULAR DIFFUSE 10.04% CAPSULAR SIGN. UNKNOWN 11 0.35% 49 1.89% POSTERIOR CAPSULE 4 0.13% POSTERIOR CAPSULE SIGN. UNKNOWN 6 0.19% POSTERIOR CAPSULE SUSPICIOUS 3 0.10% GENERALIZED CATARACT* 7 0.23% 4 0.15% SUBLUXATION/LUXATION 20.08% VITREOUS PERSISTENT HYALOID ARTERY 41 1.32% 24 0.93% PHPV/PTVL 4 0.13% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.06% 4 0.15% DEGENERATION ANTERIOR CHAMBER 20.08% FUNDUS RETINAL ATROPHY--GENERALIZED 10.04% RETINAL ATROPHY--SUSPICIOUS 8 0.26% 1 0.04% RETINAL DYSPLASIA FOCAL/FOLDS 43 1.39% 15 0.58% RETINAL DYSPLASIA GEOGRAPHIC 1 0.03% 1 0.04% RETINAL DYSPLASIA GENERALIZED/DETACHED 2 0.06% CHOROIDAL HYPOPLASIA 11 0.43% STAPHYLOMA / COLOBOMA 1 0.03% RETINAL DETACHMENT 1 0.03% OPTIC NERVE COLOBOMA 3 0.10% 6 0.23% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 5 0.16% MICROPAPILLA 3 0.10% 8 0.31% OTHER OTHER, INHERITED 11 0.35% 13 0.50% OTHER, NON -INHERITED 14 0.45% 152 5.88% NORMAL NORMAL 2735 88.20% 2221 85.85%

SPANISH WATER DOG

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Autosomal * - generalized recessive

* A mutation-based DNA test is available for dominant PRA.

Description and Comments

E Retinal atrophy- generalized (PRA)

SPANISH WATER DOG

1991 - 1999 2000-2007 TOTAL NUMBER OF SPANISH WATER DOG EXAMINED 90

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 11.11% THIRD EYELID GLAND PROLAPSE 11.11% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 22.22% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 11.11% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 11.11% ANT. CORTEX PUNCT. SIGN. UNKNOWN 22.22% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 11.11% NUCLEUS PUNCTATE* 11.11% NUCLEUS PUNCTATE SIGN. UNKNOWN 11.11% CAPSULAR INTERMEDIATE 11.11% CAPSULAR SIGN. UNKNOWN 22.22% VITREOUS PERSISTENT HYALOID ARTERY 11.11% FUNDUS RETINAL ATROPHY--GENERALIZED 22.22% RETINAL ATROPHY--SUSPICIOUS 11.11% RETINAL DYSPLASIA FOCAL/FOLDS 22.22% OTHER OTHER, INHERITED 11.11% OTHER, NON -INHERITED 66.67% NORMAL NORMAL 80 88.89%

SPINONE ITALIANO

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 4,5 Breeder option

B. Entropion Not defined 3 Breeder option

C. Persistent pupillary Not defined 2,3 Breeder option membranes - iris to iris

D. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

B. Entropion

C. Persistent pupillary membranes (PPM)

D. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Spinone Italiano breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2007 and/or Data from CERF All-Breeds Report, 2002-2006.

5. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

SPINONE ITALIANO

1991 - 1999 2000-2007 TOTAL NUMBER OF SPINONE ITALIANO EXAMINED 117 941

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 2 1.71% 21 2.23% ECTROPION 2 1.71% 4 0.43% DISTICHIASIS 2 1.71% 9 0.96% EURY/MACRO BLEPHARON 20.21% THIRD EYELID CARTILAGE ANOMALY/EVERSION 20.21% GLAND PROLAPSE 30.32% UVEA IRIS / CILIARY BODY CYSTS 10.11% IRIS COLOBOMA 10.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 29 3.08% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 10.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 20.21% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 6 5.13% 32 3.40% ANTERIOR CORTEX PUNCTATE* 30.32% ANTERIOR CORTEX INTERMEDIATE* 1 0.85% 9 0.96% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.85% 14 1.49% POSTERIOR CORTEX PUNCTATE* 20.21% POSTERIOR CORTEX INTERMEDIATE* 3 2.56% 3 0.32% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 1.71% 3 0.32% EQUATORIAL CORTEX PUNCTATE* 10.11% EQUATORIAL CORTEX INTERMEDIATE* 50.53% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 60.64% ANTERIOR SUTURES PUNCTATE* 20.21% ANTERIOR SUTURES INTERMEDIATE* 10.11% POSTERIOR SUTURES PUNCTATE* 10.11% POSTERIOR SUTURES INTERMEDIATE* 40.43% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.85% 2 0.21% NUCLEUS (SIZE UNSPECIFIED)* 2 1.71% NUCLEUS PUNCTATE* 3 2.56% 8 0.85% NUCLEUS INTERMEDIATE* 40.43% NUCLEUS DIFFUSE* 10.11% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 2.56% 17 1.81% CAPSULAR PUNCTATE 20.21% CAPSULAR SIGN. UNKNOWN 1 0.85% 5 0.53% SUBLUXATION/LUXATION 10.11% VITREOUS PERSISTENT HYALOID ARTERY 20.21% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.71% 3 0.32% DEGENERATION SYNERESIS 30.32% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 40.43%

SPINONE ITALIANO

1991 - 1999 2000-2007 OTHER OTHER, INHERITED 20.21% OTHER, NON -INHERITED 48 5.10% NORMAL NORMAL 103 88.03% 836 88.84%

*** STAFFORDSHIRE BULL TERRIER (ENGLISH)

*** Please note that since 1972 the AKC considers the Staffordshire Bull Terrier a different breed than the American Staffordshire Terrier.

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 6 Breeder option

B. Entropion Not defined 1 Breeder option

C. Persistent pupillary membranes - iris to iris Not defined 7,8 Breeder option - all other forms Not defined 8 NO

D. Cataract Autosomal 1-3,7,9 NO recessive

E. Persistent Not defined 1,4,5 NO hyperplastic primary vitreous

F. Persistent hyaloid Not defined 6 Breeder option artery

Description and Comments

A. Distichiasis

B. Entropion

C. Persistent pupillary membranes (PPM)

D. Cataract

The Animal Health Trust (UK) identified autosomal recessive gene mutation causing hereditary cataract in this breed. Genetic test is available. website: www.aht.org.uk.

E. Persistent hyperplastic primary vitreous (PHPV)

A congenital defect resulting from abnormalities in the development and regression of the hyaloid artery (the primary vitreous) and the interaction of this blood vessel with the posterior lens capsule/cortex during embryogenesis. This condition is often associated with persistent tunica vasculosa lentis (PTVL) which results from failure of regression of the embryologic vascular network which surrounds the developing lens.

F. Persistent hyaloid artery (PHA)

A congenital defect resulting from abnormalities in the development and regression of the hyaloid artery. The blood vessel remnant can be present in the vitreous as a small patent vascular strand (PHA) or as a non-vascular strand that appears gray-white (persistent hyaloid remnant).

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Barnett KC: Hereditary cataracts in the dog. J Small Anim Pract 19:109, 1978.

3. Barnett KC: The diagnosis and differential diagnosis of cataracts in the dog. J Small Anim Pract 26:305, 1985.

4. Leon A et al: Hereditary persistent hyperplastic primary vitreous in the Staffordshire Bull Terrier. J Amer Anim Hosp Assoc 22:765, 1986.

5. Curtis R, Barnett KC, Leon A: Persistent hyperplastic primary vitreous in the Staffordshire bull terrier. Vet Rec 115:385, 1984.

6. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

7. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

8. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

9. Mellersh CS, Pettitt L, Forman OP, et al: Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts. Vet Ophthalmol 9:369-378, 2006.

STAFFORDSHIRE BULL TERRIER (ENG.)

1991 - 1999 2000-2007 TOTAL NUMBER OF STAFFORDSHIRE BULL TERRIER (ENG.) 147 321 EXAMINED Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 10 6.80% 32 9.97% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 4.76% 4 1.25% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.68% 1 0.31% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 2 1.36% 5 1.56% ANTERIOR CORTEX PUNCTATE* 20.62% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.68% 7 2.18% POSTERIOR CORTEX INTERMEDIATE* 2 1.36% POST. CORTEX PUNCT. SIGN. UNKNOWN 10.31% EQUATORIAL CORTEX PUNCTATE* 10.31% EQUATORIAL CORTEX INTERMEDIATE* 1 0.68% 2 0.62% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 1 0.68% 2 0.62% ANTERIOR SUTURES PUNCTATE* 10.31% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 1 0.68% CAPSULAR PUNCTATE 10.31% CAPSULAR INTERMEDIATE 10.31% CAPSULAR SIGN. UNKNOWN 72.18% VITREOUS PERSISTENT HYALOID ARTERY 10.31% DEGENERATION (NO FURTHER SPECIFICATION) 2 1.36% 2 0.62% DEGENERATION SYNERESIS 30.93% FUNDUS RETINAL ATROPHY--GENERALIZED 10.31% RETINAL DYSPLASIA FOCAL/FOLDS 1 0.68% 3 0.93% RETINAL DYSPLASIA GEOGRAPHIC 20.62% OTHER OTHER, NON -INHERITED 16 4.98% NORMAL NORMAL 123 83.67% 270 84.11%

STANDARD SCHNAUZER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

C. Cataract Not defined 1 NO

D. Retinal atrophy Presumed 1 NO -generalized autosomal recessive

E. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Cataract

There are apparently several forms of cataract in the breed: 1) posterior cortex and posterior/total nucleus involvement, with slow progression; 2) dense posterior polar opacity near the subcapsular region which progresses rapidly to very dense posterior polar plaques in young animals; 3) dense posterior polar opacity like that reported in young animals but found in older animals with variable progression.

D. Retinal atrophy-generalized

E. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Standard Schnauzer breed. The conditions listed are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991- 1998.

STANDARD SCHNAUZER

1991 - 1999 2000-2007 TOTAL NUMBER OF STANDARD SCHNAUZER EXAMINED 735 1118

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 10.09% GLAUCOMA 2 0.27% EYELIDS DISTICHIASIS 16 2.18% 18 1.61% THIRD EYELID CARTILAGE ANOMALY/EVERSION 10.09% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 8 1.09% 9 0.81% UVEA IRIS / CILIARY BODY CYSTS 10.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 2 0.27% 8 0.72% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.27% 1 0.09% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.14% 2 0.18% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.14% 1 0.09% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 25 3.40% 23 2.06% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.14% ANTERIOR CORTEX PUNCTATE* 1 0.14% 4 0.36% ANTERIOR CORTEX INTERMEDIATE* 3 0.41% 4 0.36% ANTERIOR CORTEX DIFFUSE* 2 0.27% ANT. CORTEX PUNCT. SIGN. UNKNOWN 8 1.09% 12 1.07% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.14% POSTERIOR CORTEX PUNCTATE* 1 0.14% 1 0.09% POSTERIOR CORTEX INTERMEDIATE* 3 0.41% 5 0.45% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.27% 4 0.36% EQUATORIAL CORTEX PUNCTATE* 2 0.27% 1 0.09% EQUATORIAL CORTEX INTERMEDIATE* 6 0.82% 5 0.45% EQUATORIAL CORTEX DIFFUSE* 4 0.54% EQUATORIAL CORTEX SUSPICIOUS 1 0.14% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 4 0.54% 4 0.36% ANTERIOR SUTURES PUNCTATE* 1 0.14% ANTERIOR SUTURES INTERMEDIATE* 1 0.14% 1 0.09% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.27% 1 0.09% POSTERIOR SUTURES PUNCTATE* 2 0.27% POSTERIOR SUTURES DIFFUSE* 1 0.14% POSTERIOR SUTURES SUSPICIOUS 1 0.14% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.54% 8 0.72% NUCLEUS PUNCTATE* 1 0.14% 2 0.18% NUCLEUS INTERMEDIATE* 3 0.41% 4 0.36% NUCLEUS PUNCTATE SIGN. UNKNOWN 5 0.68% 5 0.45% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.14% CAPSULAR PUNCTATE 40.36% CAPSULAR INTERMEDIATE 30.27% CAPSULAR DIFFUSE 10.09% CAPSULAR SIGN. UNKNOWN 40.36%

STANDARD SCHNAUZER

1991 - 1999 2000-2007 GENERALIZED CATARACT* 1 0.14% 3 0.27% SUBLUXATION/LUXATION 1 0.14% VITREOUS PERSISTENT HYALOID ARTERY 30.27% DEGENERATION (NO FURTHER SPECIFICATION) 3 0.41% 1 0.09% DEGENERATION ANTERIOR CHAMBER 20.18% DEGENERATION SYNERESIS 20.18% FUNDUS RETINAL ATROPHY--GENERALIZED 9 1.22% 5 0.45% RETINAL ATROPHY--SUSPICIOUS 3 0.41% 2 0.18% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.54% 14 1.25% RETINAL DYSPLASIA GEOGRAPHIC 1 0.14% 1 0.09% RETINAL DETACHMENT 1 0.14% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.27% MICROPAPILLA 10.09% OTHER OTHER, INHERITED 5 0.68% 2 0.18% OTHER, NON -INHERITED 3 0.41% 58 5.19% NORMAL NORMAL 636 86.53% 1000 89.45%

SUSSEX SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Ectropion Not defined 1 Breeder option

B. Distichiasis Not defined 2 Breeder option

C. Macroblepharon Not defined 2 Breeder option

D. Iris coloboma Not defined 2 NO

E. Persistent hyaloid Not defined 1 Breeder option artery

F. Retinal dysplasia Not defined 1 Breeder option -folds

Description and Comments

A. Ectropion

B. Distichiasis

C. Macroblepharon

D. Iris coloboma

E. Persistent hyaloid artery (PHA)

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Sussex Spaniel breed. The conditions listed are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000-2002.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002-2003.

SUSSEX SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF SUSSEX SPANIEL EXAMINED 198 142

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 0.51% ECTROPION 13 6.57% 6 4.23% DISTICHIASIS 15 7.58% 6 4.23% EURY/MACRO BLEPHARON 7 3.54% 15 10.56% UVEA IRIS COLOBOMA 5 2.53% 2 1.41% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 1 0.51% 1 0.70% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 1.52% 3 2.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.70% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 0.51% 4 2.82% ANTERIOR CORTEX DIFFUSE* 10.70% ANT. CORTEX PUNCT. SIGN. UNKNOWN 1 0.51% 1 0.70% POSTERIOR CORTEX PUNCTATE* 10.70% POSTERIOR CORTEX INTERMEDIATE* 21.41% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.70% POSTERIOR SUTURES INTERMEDIATE* 1 0.51% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.51% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.51% CAPSULAR PUNCTATE 10.70% CAPSULAR INTERMEDIATE 21.41% CAPSULAR SIGN. UNKNOWN 1 0.51% 3 2.11% GENERALIZED CATARACT* 10.70% VITREOUS PERSISTENT HYALOID ARTERY 23 11.62% 10 7.04% PHPV/PTVL 1 0.51% 3 2.11% DEGENERATION (NO FURTHER SPECIFICATION) 1 0.51% FUNDUS RETINAL DYSPLASIA FOCAL/FOLDS 13 6.57% 18 12.68% RETINAL DYSPLASIA GEOGRAPHIC 21.41% OPTIC NERVE COLOBOMA 3 1.52% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.51% MICROPAPILLA 10.70% OTHER OTHER, INHERITED 1 0.51% 1 0.70% OTHER, NON -INHERITED 3 1.52% 15 10.56% NORMAL NORMAL 120 60.61% 89 62.68%

SWEDISH LAPPHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Retinal atrophy Autosomal 1 NO - generalized (prcd) recessive

Description and Comments

A. Retinal atrophy-generalized (prcd)

References

SWEDISH VALLHUND

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 5,6 Breeder option

B. Corneal dystrophy Not defined 6 Breeder option - epithelial/stromal

C. Persistent pupillary Not defined 1,2 Breeder option membranes - iris to iris

D. Cataract Not defined 4 NO

E. Vitreous Not defined 4 Breeder option degeneration

F. Retinal dysplasia Not defined 6 Breeder option - folds

G. Retinopathy Not defined 3 Breeder option

Description and Comments

A. Distichiasis

B. Corneal dystrophy- epithelial/stromal

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

G. Retinopathy

Several forms of fundus abnormalities have been seen in the Swedish Vallhund. Some of the changes resemble multifocal acquired chorioretinopathy seen in some herding breeds. Progressive retinal atrophy (PRA) has been diagnosed in Scandinavia.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Swedish Vallhund breed. The conditions listed are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

2. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

3. Breed club request February 1, 2005 to CERF.

4. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

5. ACVO Genetics Committee, 2007 and/or Data from CERF All Breeds Report, 2002-2006.

6. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003- 2007.

SWEDISH VALLHUND

1991 - 1999 2000-2007 TOTAL NUMBER OF SWEDISH VALLHUND EXAMINED 43 449

Diagnosic Name Number Percent Number Percent EYELIDS DISTICHIASIS 21 4.68% ECTOPIC CILIA 10.22% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 61.34% UVEA IRIS / CILIARY BODY CYSTS 30.67% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 75 16.70% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.22% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 2.33% 17 3.79% ANTERIOR CORTEX PUNCTATE* 30.67% ANTERIOR CORTEX INTERMEDIATE* 1 2.33% 3 0.67% ANTERIOR CORTEX DIFFUSE* 10.22% ANT. CORTEX PUNCT. SIGN. UNKNOWN 16 3.56% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.22% POSTERIOR CORTEX PUNCTATE* 10.22% POSTERIOR CORTEX INTERMEDIATE* 10.22% POSTERIOR CORTEX DIFFUSE* 10.22% POST. CORTEX PUNCT. SIGN. UNKNOWN 20.45% EQUATORIAL CORTEX PUNCTATE* 20.45% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 4.65% 4 0.89% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 20.45% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 61.34% POSTERIOR SUTURES PUNCTATE* 20.45% POSTERIOR SUTURES INTERMEDIATE* 20.45% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 15 3.34% NUCLEUS PUNCTATE* 40.89% NUCLEUS INTERMEDIATE* 20.45% NUCLEUS PUNCTATE SIGN. UNKNOWN 34 7.57% CAPSULAR SIGN. UNKNOWN 12 2.67% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 71.56% DEGENERATION ANTERIOR CHAMBER 10.22% DEGENERATION SYNERESIS 61.34% FUNDUS RETINAL ATROPHY--SUSPICIOUS 19 4.23% RETINAL DYSPLASIA FOCAL/FOLDS 10 2.23% RETINAL DYSPLASIA GEOGRAPHIC 30.67% OPTIC NERVE COLOBOMA 1 2.33% OTHER OTHER, INHERITED 11 2.45% OTHER, NON -INHERITED 61 13.59% NORMAL NORMAL 40 93.02% 288 64.14%

TIBETAN SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Entropion Not defined 1 Breeder option

B. Distichiasis Not defined 1 Breeder option

C. Chronic superficial Not defined 4 Breeder option keratitis/pannus

D. Persistent pupillary membranes - iris to iris Not defined 4,6 Breeder option - all other forms Not defined 6 NO

E. Cataract Not defined 1 NO

F. Retinal atrophy Not defined 1-3 NO - generalized

G. Ceroid Lipofuscinosis Not defined 5 NO

Descriptions and Comments

A. Entropion

A conformational defect resulting in an "in rolling" of one or more of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull.

B. Distichiasis

C. Chronic superficial keratitis / Pannus

D. Persistent pupillary membranes (PPM)

E. Cataract

F. Retinal atrophy - generalized

G. Ceroid Lipofuscinosis

An inherited disease of man and animal characterized by the accumulation of lipopigment in various tissues of the body including the eye. It results in progressive neurologic disease including blindness. (Also called Batten’s disease).

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Bjerkas, E.: Progressive retinal atrophy in dogs in Norway. Norsk Veterinaertidsskrift 103(6):601-610, 1991.

3. Bjerkas E, Narfstrom K: Progressive retinal atrophy in the Tibetian spaniel in Norway and Sweden. Vet Rec 134:377, 1994.

4. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

5. Assessment of retinal function and characterization of lysosomal storage body accumalation is the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis Narfstron K et al; Am J Vet Res 2005;66;67-76.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

TIBETAN SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF TIBETAN SPANIEL EXAMINED 930 1379

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.11% DRY EYE 2 0.22% EYELIDS ENTROPION 21 2.26% 54 3.92% ECTROPION 20.15% DISTICHIASIS 82 8.82% 95 6.89% ECTOPIC CILIA 1 0.11% 2 0.15% EURY/MACRO BLEPHARON 2 0.22% 3 0.22% THIRD EYELID GLAND PROLAPSE 3 0.32% 1 0.07% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.11% 6 0.44% DYSTROPHY--ENDOTHELIAL 10.07% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 7 0.75% 1 0.07% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 3 0.32% 6 0.44% UVEA IRIS / CILIARY BODY CYSTS 20.15% IRIS COLOBOMA 2 0.22% 1 0.07% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 7 0.75% 20 1.45% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.11% 3 0.22% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 30.22% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 15 1.61% 28 2.03% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 3 0.32% ANTERIOR CORTEX PUNCTATE* 20.15% ANTERIOR CORTEX INTERMEDIATE* 4 0.43% 12 0.87% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 0.32% 10 0.73% POSTERIOR CORTEX PUNCTATE* 1 0.11% POSTERIOR CORTEX INTERMEDIATE* 3 0.32% 8 0.58% POST. CORTEX PUNCT. SIGN. UNKNOWN 1 0.11% 4 0.29% EQUATORIAL CORTEX PUNCTATE* 10.07% EQUATORIAL CORTEX INTERMEDIATE* 40.29% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.07% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.11% ANTERIOR SUTURES PUNCTATE* 10.07% ANTERIOR SUTURES INTERMEDIATE* 20.15% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.15% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.22% POSTERIOR SUTURES PUNCTATE* 1 0.11% 1 0.07% POSTERIOR SUTURES INTERMEDIATE* 2 0.22% 2 0.15% POSTERIOR SUTURES SUSPICIOUS 2 0.22% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.75% 10 0.73% NUCLEUS INTERMEDIATE* 50.36% NUCLEUS DIFFUSE* 10.07% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.32% 1 0.07%

TIBETAN SPANIEL

1991 - 1999 2000-2007 ANTERIOR CAPSULE 3 0.32% CAPSULAR PUNCTATE 10.07% CAPSULAR INTERMEDIATE 20.15% CAPSULAR SIGN. UNKNOWN 2 0.22% 5 0.36% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.11% VITREOUS PERSISTENT HYALOID ARTERY 5 0.54% 3 0.22% DEGENERATION (NO FURTHER SPECIFICATION) 2 0.22% 5 0.36% DEGENERATION SYNERESIS 10.07% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.11% 12 0.87% RETINAL ATROPHY--SUSPICIOUS 5 0.54% 5 0.36% RETINAL DYSPLASIA FOCAL/FOLDS 3 0.32% 3 0.22% RETINAL DYSPLASIA GENERALIZED/DETACHED 10.07% OPTIC NERVE COLOBOMA 5 0.54% 1 0.07% OPTIC NERVE HYPOPLASIA 10.07% OTHER OTHER, INHERITED 4 0.43% 9 0.65% OTHER, NON -INHERITED 3 0.32% 66 4.79% NORMAL NORMAL 776 83.44% 1129 81.87%

TIBETAN TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Corneal dystrophy Not defined 19 Breeder option - epithelial/stromal

C. Persistent pupillary membranes - iris to iris Not defined 1,19 Breeder option - all other forms Not defined 19 NO

D. Cataract Not defined 1 NO

E. Lens luxation Simple 1-5,20 NO autosomal recessive

F. Retinal atrophy Not defined 1,3,6,7,9-14,16 NO - generalized

G. Retinal atrophy Not defined 8 NO - nyctalopia

H. [Neuronal] ceroid Not defined 15,17,18 NO lipofuscinosis

Description and Comments

A. Distichiasis

B. Corneal dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

C. Persistent pupillary membranes (PPM)

D. Cataract

E. Luxated lens

F. Retinal atrophy-generalized

G. Retinal atrophy- nyctalopia (night blindness)

Loss of night (scotopic) vision caused by selective degeneration of the rod photoreceptors. There are reports to suggest there may be more than one variety of this disorder:

-- emerging night blindness at 1-2 years of age (up to 1-4 years of age), with ophthalmoscopic signs of peripheral to central retinal atrophy emerging soon thereafter. -- advanced night blindness at a younger age but with no obvious ophthalmoscopic signs until perhaps 4 years of age.

There are ERG studies to indicate that there is depression of the B wave at 10-12 weeks of age in the second variety and slower depression in the first variety. Some may have no obvious signs at 5-6 years of age, only to develop clinical signs at 6-7 years of age. It is logical that any animal found with signs of bilateral atrophy should not be bred. Members of the family of the affected animal should be carefully screened. Perhaps, ERG in animals less than 4 years of age is logical, especially if the animal is intended for breed foundation.

H. [Neuronal] Ceroid Lipofuscinosis

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All Breeds Report, 1991-1998.

2. Willis MB et al: Genetic aspects of lens luxation in the Tibetan terrier. Vet Rec 104:409, 1979.

3. Barnett KC, Curtis R: Lens luxation and progressive retinal atrophy in the Tibetan terrier. Vet Rec 103:160, 1978.

4. Curtis R, Barnett KC: Primary lens luxation in the dog. J Small Anim Pract 21:257, 1980.

5. Curtis R: Aetiopathological aspects of inherited lens dislocation in the Tibetan terrier. J Comp Path 93:151, 1983.

6. Garmer L, Lagerman-Pekari M, Schauman P, Tigerschiold A: Progressiv retinal atrofi tibetansk terrier. Svensk Veterinartidning 24(5):158, 1974.

7. Arden GB, Fox B, Bull T: Abnormal photoreceptors in a dog with a delayed progressive retinal atrophy. Trans Ophthal Soc UK 103:411, 1983.

8. Loew E, Riis R: Congenital nyctalopia in the Tibetan terrier. Trans Am Coll Vet Ophthalmol, 1983.

9. Curtis R, et al: Progressive retinal atrophy in the Tibetan terrier. Trans Am Coll Vet Ophthalmol 16:208, 1985.

10. Millichamp N et al: Progressive retinal atrophy in the Tibetan terrier. J Am Vet Med Assoc 192:769, 1987.

11. Curtis R, Kemp CM: Rhodopsin levels and visual sensitivity in Tibetan terriers with progressive rod-cone degeneration. Invest Ophthalmol Vis Sci 29 (Suppl):142, 1988.

12. Hussain AA, et al: Progressive retinal atrophy in the Tibetan terrier: Studies on cyclic GMP and taurine homeostasis. Biochem Soc Trans 16:317, 1988.

13. Riis RC, Loew ER: Pathological notations of the retinal degeneration (RD1) in Tibetan terriers. Trans Am Coll Vet Ophthalmol 18:89, 1988.

14. Riis RC, Loew ER: Tibetan terrier retinopathy: Update. Trans Am Coll Vet Ophthalmol 15 (Suppl):1, 1985.

15. Martin, L. Katz, Narfstrom, K. et al. Assessment of retinal function and Characterization of lysosomal storage body accumalation is the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis Am J Vet Res 66:67-76, 2005.

16. Dekomein, et al. Exclusion of the PDE6A gene for generalized progress retinal atrophy in 11 breeds of dog. Animal Genetics 31:2, 2000.

17. Brahm, R., Matiasek, K.: Neuronal Ceroid Lipofuscinosis in two closely related Tibetan Terriers and one Polish Owczarek Nizinny (PON) dog: Clinical, ophthalmological and bioptical findings. ECVO Proceedings, 2004.

18. Drogemuller, C., et al: Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in Dog. Journal of Heredity, June 15, 2005 p.1.

19. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

20. Sargan DR, Withers D, Pettitt L, et al: Mapping the mutation causing lens luxation in several terrier breeds. J Heredity 98(5):534-358, 2007.

TIBETAN TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF TIBETAN TERRIER EXAMINED 2213 3232

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 2 0.09% 2 0.06% GLAUCOMA 2 0.09% 1 0.03% EYELIDS DISTICHIASIS 34 1.54% 49 1.52% THIRD EYELID GLAND PROLAPSE 1 0.05% 1 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 17 0.77% 49 1.52% DYSTROPHY--ENDOTHELIAL 1 0.05% EXPOSURE KERATOPATHY SYNDROME/PIGMENTARY KERATITI 1 0.05% 1 0.03% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 34 1.54% 193 5.97% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 2 0.09% 14 0.43% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 11 0.50% 18 0.56% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 7 0.32% 2 0.06% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 88 3.98% 91 2.82% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 14 0.63% ANTERIOR CORTEX PUNCTATE* 14 0.63% 19 0.59% ANTERIOR CORTEX INTERMEDIATE* 16 0.72% 15 0.46% ANTERIOR CORTEX DIFFUSE* 2 0.09% 1 0.03% ANTERIOR CORTEX SUSPICIOUS 1 0.05% ANT. CORTEX PUNCT. SIGN. UNKNOWN 32 1.45% 81 2.51% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 7 0.32% POSTERIOR CORTEX PUNCTATE* 10 0.45% 9 0.28% POSTERIOR CORTEX INTERMEDIATE* 23 1.04% 16 0.50% POSTERIOR CORTEX DIFFUSE* 5 0.23% POSTERIOR CORTEX SUSPICIOUS 1 0.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 11 0.50% 17 0.53% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 7 0.32% EQUATORIAL CORTEX PUNCTATE* 1 0.05% 5 0.15% EQUATORIAL CORTEX INTERMEDIATE* 7 0.32% 17 0.53% EQUATORIAL CORTEX DIFFUSE* 3 0.14% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 9 0.41% 11 0.34% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.05% ANTERIOR SUTURES PUNCTATE* 2 0.09% 9 0.28% ANTERIOR SUTURES INTERMEDIATE* 1 0.05% 3 0.09% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 3 0.14% 9 0.28% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 2 0.09% POSTERIOR SUTURES PUNCTATE* 2 0.09% 1 0.03% POSTERIOR SUTURES INTERMEDIATE* 4 0.18% 7 0.22% POSTERIOR SUTURES DIFFUSE* 1 0.05% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 4 0.18% 6 0.19% NUCLEUS PUNCTATE* 1 0.05% 2 0.06% NUCLEUS INTERMEDIATE* 2 0.09% 1 0.03%

TIBETAN TERRIER

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 3 0.14% 2 0.06% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.14% 11 0.34% ANTERIOR CAPSULE 1 0.05% ANTERIOR CAPSULE SIGN. UNKNOWN 3 0.14% CAPSULAR PUNCTATE 70.22% CAPSULAR INTERMEDIATE 40.12% CAPSULAR DIFFUSE 10.03% CAPSULAR SIGN. UNKNOWN 1 0.05% 18 0.56% POSTERIOR CAPSULE 2 0.09% GENERALIZED CATARACT* 8 0.36% 8 0.25% SUBLUXATION/LUXATION 2 0.09% 12 0.37% VITREOUS PERSISTENT HYALOID ARTERY 1 0.05% 1 0.03% PHPV/PTVL 10.03% DEGENERATION (NO FURTHER SPECIFICATION) 5 0.23% 8 0.25% DEGENERATION ANTERIOR CHAMBER 10.03% DEGENERATION SYNERESIS 50.15% FUNDUS RETINAL ATROPHY--GENERALIZED 16 0.72% 10 0.31% RETINAL ATROPHY--SUSPICIOUS 33 1.49% 44 1.36% RETINAL DYSPLASIA FOCAL/FOLDS 40.12% RETINAL DYSPLASIA GEOGRAPHIC 2 0.09% 1 0.03% RETINAL DYSPLASIA GENERALIZED/DETACHED 30.09% CHOROIDAL HYPOPLASIA 10.03% STAPHYLOMA / COLOBOMA 10.03% RETINAL DETACHMENT 1 0.05% 2 0.06% RETINAL HEMORRHAGE 2 0.09% 1 0.03% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.09% OPTIC NERVE HYPOPLASIA 20.06% MICROPAPILLA 20.06% OTHER OTHER, INHERITED 14 0.63% 10 0.31% OTHER, NON -INHERITED 9 0.41% 117 3.62% NORMAL NORMAL 1920 86.76% 2759 85.37%

VIZSLA

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 3 Breeder option

B. Entropion Not defined 1 Breeder option

C. Corneal dystrophy Not defined 1 Breeder option -epithelial/stromal

D. Persistent pupillary membrane iris to iris Not defined 2 Breeder option iris to lens Not defined 2 NO

E. Cataract Not defined 1 NO

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

B. Entropion

A conformational defect resulting in an "in-rolling" of one or both of the eyelids which may cause ocular irritation. It is likely that entropion is influenced by several genes (polygenic), defining the skin and other structures which make up the eyelids, the amount and weight of the skin covering the head and face, the orbital contents, and the conformation of the skull. The Vizsla Club of America, recognizing entropion as an unacceptable problem in their breed, has requested that entropion be given a “NO” rating.

C. Corneal Dystrophy-epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers; usually inherited and bilateral.

D. Persistent pupillary membrane (PPM)

E. Cataract

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Vizsla breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

3. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

VIZSLA

1991 - 1999 2000-2007 TOTAL NUMBER OF VIZSLA EXAMINED 407 926

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 1 0.25% 2 0.22% ECTROPION 1 0.25% 2 0.22% DISTICHIASIS 4 0.98% 9 0.97% ECTOPIC CILIA 10.11% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 13 3.19% 14 1.51% DYSTROPHY--ENDOTHELIAL 10.11% UVEA IRIS / CILIARY BODY CYSTS 10.11% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 5 1.23% 17 1.84% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 7 1.72% 5 0.54% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.11% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 9 2.21% 26 2.81% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.25% ANTERIOR CORTEX PUNCTATE* 40.43% ANTERIOR CORTEX INTERMEDIATE* 1 0.25% 10 1.08% ANTERIOR CORTEX DIFFUSE* 1 0.25% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 1.23% 12 1.30% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.25% POSTERIOR CORTEX PUNCTATE* 2 0.49% 6 0.65% POSTERIOR CORTEX INTERMEDIATE* 60.65% POSTERIOR CORTEX DIFFUSE* 1 0.25% POST. CORTEX PUNCT. SIGN. UNKNOWN 60.65% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.25% EQUATORIAL CORTEX PUNCTATE* 20.22% EQUATORIAL CORTEX INTERMEDIATE* 4 0.98% 8 0.86% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 60.65% POSTERIOR SUTURES PUNCTATE* 1 0.25% 3 0.32% POSTERIOR SUTURES INTERMEDIATE* 30.32% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.11% NUCLEUS (SIZE UNSPECIFIED)* 1 0.25% NUCLEUS INTERMEDIATE* 20.22% NUCLEUS PUNCTATE SIGN. UNKNOWN 30.32% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.25% CAPSULAR PUNCTATE 70.76% CAPSULAR INTERMEDIATE 20.22% CAPSULAR SIGN. UNKNOWN 1 0.25% 16 1.73% SUBLUXATION/LUXATION 10.11% VITREOUS PERSISTENT HYALOID ARTERY 2 0.49% DEGENERATION (NO FURTHER SPECIFICATION) 20.22% DEGENERATION ANTERIOR CHAMBER 10.11% FUNDUS RETINAL ATROPHY--GENERALIZED 20.22%

VIZSLA

1991 - 1999 2000-2007 RETINAL ATROPHY--SUSPICIOUS 2 0.49% 1 0.11% RETINAL DYSPLASIA FOCAL/FOLDS 2 0.49% 1 0.11% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.25% OTHER OTHER, INHERITED 3 0.74% 4 0.43% OTHER, NON -INHERITED 5 1.23% 51 5.51% NORMAL NORMAL 347 85.26% 842 90.93%

WEIMARANER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Entropion Not defined 1 Breeder option

C. Everted cartilage Not defined 1 Breeder option of the third eyelid

D. Corneal dystrophy- Not defined 2,3 Breeder option epithelial/stromal

E. Persistent pupillary membranes iris to iris Not defined 3 Breeder option

F. Cataract Not defined 1 NO

G. Retinal atrophy Not defined 1 NO -generalized

Description and Comments

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regards to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded. Breeding discretion is advised.

In this breed, because there is significant clinical disease associated with the abnormal hairs, breeding should be discouraged.

B. Entropion

C. Everted cartilage of the third eyelid

A scroll-like curling of the cartilage of the third eyelid, usually everting the margin. This condition may occur in one or both eyes and may cause mild ocular irritation.

D. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Persistent pupillary membranes (PPM)

F. Cataract

G. Retinal atrophy-generalized

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Weimaraner. The conditions listed are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

WEIMARANER

1991 - 1999 2000-2007 TOTAL NUMBER OF WEIMARANER EXAMINED 397 590

Diagnosic Name Number Percent Number Percent EYELIDS ENTROPION 2 0.50% DISTICHIASIS 122 30.73% 165 27.97% THIRD EYELID CARTILAGE ANOMALY/EVERSION 3 0.76% 5 0.85% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 5 1.26% 14 2.37% DYSTROPHY--ENDOTHELIAL 10.17% UVEA IRIS / CILIARY BODY CYSTS 3 0.76% IRIS COLOBOMA 1 0.25% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 0.76% 7 1.19% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.25% 1 0.17% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 10.17% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 20 5.04% 36 6.10% ANTERIOR CORTEX PUNCTATE* 3 0.76% 4 0.68% ANTERIOR CORTEX INTERMEDIATE* 9 2.27% 20 3.39% ANTERIOR CORTEX DIFFUSE* 1 0.25% ANT. CORTEX PUNCT. SIGN. UNKNOWN 5 1.26% 10 1.69% POSTERIOR CORTEX PUNCTATE* 1 0.25% 3 0.51% POSTERIOR CORTEX INTERMEDIATE* 4 1.01% 5 0.85% POSTERIOR CORTEX DIFFUSE* 1 0.25% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.50% 8 1.36% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.50% EQUATORIAL CORTEX PUNCTATE* 1 0.25% 4 0.68% EQUATORIAL CORTEX INTERMEDIATE* 5 1.26% 1 0.17% EQUATORIAL CORTEX DIFFUSE* 1 0.25% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 6 1.51% 8 1.36% ANTERIOR SUTURES PUNCTATE* 10.17% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.34% POSTERIOR SUTURES PUNCTATE* 1 0.25% POSTERIOR SUTURES INTERMEDIATE* 1 0.25% 1 0.17% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 10.17% NUCLEUS PUNCTATE* 1 0.25% 2 0.34% NUCLEUS INTERMEDIATE* 2 0.50% 2 0.34% NUCLEUS PUNCTATE SIGN. UNKNOWN 50.85% CAPSULAR INTERMEDIATE 10.17% CAPSULAR SIGN. UNKNOWN 1 0.25% 10 1.69% GENERALIZED CATARACT* 1 0.25% 1 0.17% VITREOUS PERSISTENT HYALOID ARTERY 1 0.25% 3 0.51% FUNDUS RETINAL ATROPHY--GENERALIZED 2 0.50% 1 0.17% RETINAL ATROPHY--SUSPICIOUS 1 0.25% 1 0.17% RETINAL DYSPLASIA FOCAL/FOLDS 10.17%

WEIMARANER

1991 - 1999 2000-2007 RETINAL DYSPLASIA GEOGRAPHIC 1 0.25% 1 0.17% RETINAL HEMORRHAGE 10.17% OTHER OTHER, INHERITED 2 0.50% OTHER, NON -INHERITED 4 1.01% 38 6.44% NORMAL NORMAL 245 61.71% 394 66.78%

WELSH SPRINGER SPANIEL

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Presumed 1,2,8 NO autosomal dominant

B. Entropion Not defined 6,7 Breeder option

C. Distichiasis Not defined 1 Breeder option

D. Corneal dystrophy Not defined 6,7 Breeder option -epithelial/stromal

E. Persistent pupillary membranes iris to iris Not defined 1,7 Breeder option all other forms Not defined 7 NO

F. Cataract Presumed 1,3,4 NO autosomal recessive

G. Vitreous Not defined 9 Breeder option degeneration

H. Retinal atrophy Not defined 1,5 NO -generalized

I. Retinal dysplasia Not defined 7 Breeder option -folds

Description and Comments

A. Glaucoma

An elevation of intraocular pressure (IOP) which, when sustained, causes intraocular damage resulting in blindness. The elevated IOP occurs because the fluid cannot leave through the iridocorneal angle. Diagnosis and classification of glaucoma requires measurement of IOP (tonometry) and examination of the iridocorneal angle (gonioscopy). Neither of these tests is part of a routine breed eye screening exam.

Primary angle closure glaucoma has been reported in the Welsh Springer Spaniel. Females are affected more than males. Onset ranges from 10 weeks to 10 years. At the iridocorneal angle, the pectinate ligaments appear sparse and wispy in contrast to the sturdy fibers seen in other breeds. A dominant mode of inheritance is reported.

B. Entropion

C. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regard to breeding dogs with this entity. The hereditary basis has not been established, although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded; breeding discretion is advised.

D. Corneal Dystrophy- epithelial/stromal

A non-inflammatory corneal opacity (white to gray) present in one or more of the corneal layers. Corneal dystrophy implies a probable inherited basis and is usually bilateral.

E. Persistent pupillary membranes (PPM)

F. Cataract

In the Welsh springer spaniel, lesions may be seen as early as 8-12 weeks of age and progress rapidly to complete cataract, impairing vision. A recessive mode of inheritance is reported.

G. Vitreous degeneration

Liquefaction of the vitreous gel which may predispose to retinal detachment.

H. Retinal atrophy-generalized

I. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Cottrell BD, Barnett KC: Primary glaucoma in the Welsh springer spaniel. J Small Anim Prac 29:183, 1987.

3. Barnett KC: Hereditary cataract in the Welsh springer spaniel. J Small Anim Prac 21: 621, 1980.

4. Barnett KC: The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract 26:305, 1985.

5. Priester WA: Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res 35: 571, 1974.

6. ACVO Genetics Committee, 2002-2003 and/or Data from CERF All-Breeds Report, 2002- 2003.

7. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

8. Gelatt KN, Mackay FO: Prevalence of breed-related glaucomas in pure-bred dogs in North America. Veterinary Ophthalmology 7 (2):97-111, 2004.

9. ACVO Genetics Committee, 2006 and/or Data from CERF All Breeds Report, 2001-2005.

WELSH SPRINGER SPANIEL

1991 - 1999 2000-2007 TOTAL NUMBER OF WELSH SPRINGER SPANIEL EXAMINED 615 949

Diagnosic Name Number Percent Number Percent GLOBE GLAUCOMA 1 0.16% EYELIDS ENTROPION 11 1.79% 14 1.48% ECTROPION 20.21% DISTICHIASIS 78 12.68% 106 11.17% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 12 1.95% 18 1.90% UVEA IRIS COLOBOMA 1 0.16% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 43 6.99% 231 24.34% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 1 0.16% 1 0.11% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 10.11% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 10 1.63% 8 0.84% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 2 0.33% ANTERIOR CORTEX PUNCTATE* 3 0.49% 4 0.42% ANTERIOR CORTEX INTERMEDIATE* 10.11% ANTERIOR CORTEX SUSPICIOUS 1 0.16% ANT. CORTEX PUNCT. SIGN. UNKNOWN 11 1.79% 22 2.32% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.16% POSTERIOR CORTEX PUNCTATE* 2 0.33% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.33% 5 0.53% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 1 0.16% EQUATORIAL CORTEX PUNCTATE* 1 0.16% EQUATORIAL CORTEX INTERMEDIATE* 20.21% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.33% 3 0.32% ANTERIOR SUTURES (SIZE UNSPECIFIED)* 1 0.16% ANTERIOR SUTURES PUNCTATE* 10.11% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 2 0.33% 2 0.21% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 70.74% NUCLEUS (SIZE UNSPECIFIED)* 1 0.16% NUCLEUS PUNCTATE* 1 0.16% NUCLEUS INTERMEDIATE* 1 0.16% 1 0.11% NUCLEUS PUNCTATE SIGN. UNKNOWN 9 1.46% 13 1.37% CAPSULAR SIGN. UNKNOWN 1 0.16% 12 1.26% GENERALIZED CATARACT* 1 0.16% SUBLUXATION/LUXATION 1 0.16% VITREOUS PERSISTENT HYALOID ARTERY 4 0.65% 3 0.32% DEGENERATION (NO FURTHER SPECIFICATION) 50.53% FUNDUS RETINAL ATROPHY--GENERALIZED 1 0.16% RETINAL ATROPHY--SUSPICIOUS 5 0.81% 1 0.11% RETINAL DYSPLASIA FOCAL/FOLDS 8 1.30% 17 1.79% RETINAL DYSPLASIA GEOGRAPHIC 30.32%

WELSH SPRINGER SPANIEL

1991 - 1999 2000-2007 STAPHYLOMA / COLOBOMA 20.21% OPTIC NERVE COLOBOMA 40.42% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 1 0.16% 1 0.11% OPTIC NERVE HYPOPLASIA 30.32% MICROPAPILLA 30.32% OTHER OTHER, INHERITED 4 0.65% 4 0.42% OTHER, NON -INHERITED 3 0.49% 36 3.79% NORMAL NORMAL 454 73.82% 633 66.70%

WELSH TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Distichiasis Not defined 1 Breeder option

B. Keratoconjunctivitis Not defined 1 NO sicca (dry eye)

C. Persistent pupillary membranes iris to iris Not defined 1,2,3 Breeder option all other forms Not defined 3 NO

D. Glaucoma Not defined 1 NO

E. Cataract Not defined 1 NO

F. Lens luxation Not defined 1 NO

Description and Comment

A. Distichiasis

Eyelashes abnormally located on the eyelid margin which may cause ocular irritation. Distichiasis may occur at any time in the life of a dog. It is difficult to make a strong recommendation with regards to breeding dogs with this entity. The hereditary basis has not been established although it seems probable due to the high incidence in some breeds. Reducing the incidence is a logical goal. When diagnosed, distichiasis should be recorded. Breeding discretion is advised.

B. Keratoconjunctivitis sicca (dry eye)

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

C. Persistent pupillary membranes (PPM)

D. Glaucoma

E. Cataract

F. Lens luxation

In the Welsh terrier the condition appears to be familial, affecting animals in their middle years.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Welsh terrier breed. The conditions listed above are generally recognized to exist in the breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

WELSH TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF WELSH TERRIER EXAMINED 67 205

Diagnosic Name Number Percent Number Percent GLOBE DRY EYE 1 1.49% GLAUCOMA 1 1.49% EYELIDS DISTICHIASIS 2 2.99% 6 2.93% ECTOPIC CILIA 10.49% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 31.46% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 3 4.48% 18 8.78% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 20.98% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 2 2.99% 1 0.49% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 1 1.49% 3 1.46% ANTERIOR CORTEX INTERMEDIATE* 1 1.49% 2 0.98% ANT. CORTEX PUNCT. SIGN. UNKNOWN 3 4.48% 2 0.98% POSTERIOR CORTEX INTERMEDIATE* 20.98% POSTERIOR CORTEX SUSPICIOUS 1 1.49% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 10.49% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 20.98% CAPSULAR PUNCTATE 10.49% CAPSULAR INTERMEDIATE 20.98% CAPSULAR SIGN. UNKNOWN 94.39% POSTERIOR CAPSULE SUSPICIOUS 1 1.49% SUBLUXATION/LUXATION 1 1.49% 2 0.98% OTHER OTHER, INHERITED 10.49% OTHER, NON -INHERITED 2 2.99% 9 4.39% NORMAL NORMAL 52 77.61% 172 83.90%

WEST HIGHLAND WHITE TERRIER

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Microphthalmia Not defined 1 NO

B. Keratoconjunctivitis Not defined 1-4 NO sicca (dry eye)

C. Persistent pupillary membranes iris to iris Not defined 1,6 Breeder option all other forms Not defined 6 NO

D. Cataract Presumed 1,5 NO autosomal recessive E. Retinal atrophy- Not defined 1 NO generalized

F. Retinal dysplasia Not defined 1 Breeder option folds

Description and Comments

A. Microphthalmia

B Keratoconjunctivitis/dry eye

An abnormality of the tear film, most commonly a deficiency of the aqueous portion, although the mucin and/or lipid layers may be affected; results in ocular irritation and/or vision impairment.

C. Persistent pupillary membranes (PPM)

In the West Highland White terrier, these membranes when present, often bridge from the iris to the lens and may result in cataract with vision impairment.

D. Cataract

The cataract described in the West Highland White terrier, initially involves the posterior Y sutures and may infrequently progress, resulting in vision impairment. The age of onset is less than 6 months of age. A recessive mode of inheritance is suggested by the pedigrees which have been studied.

E. Retinal atrophy-generalized

F. Retinal dysplasia-folds

Linear, triangular, curved or curvilinear foci of retinal folding that may be single or multiple. When seen in puppies, this condition may partially or completely resolve with maturity. Its significance to vision is unknown. There are two other forms of retinal dysplasia (geographic, detached) which are known to be inherited in other breeds and, in their most severe form, cause blindness. The genetic relationship between folds and more severe forms of retinal dysplasia is undetermined.

References

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. Sansom J, Barnett KC: Keratoconjunctivitis sicca in the dog: A review of two hundred cases. J Small Anim Pract 26:121, 1985.

3. Baker, Formston: Evaluation of transplantation of the parotid duct in the treatment of keratoconjunctivitis sicca. J Small Anim Pract 9:261, 1968.

4. Kaswan R, et al: Keratoconjunctivitis sicca: Histopathologic study of the nictitating membrane and lacrimal glands from 28 dogs. Am J Vet Res 45:112, 1984.

5. Narfstrom, K: Cataract in the West Highland White terrier. J Small Anim Pract 22:467, 1981.

6. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

WEST HIGHLAND WHITE TERRIER

1991 - 1999 2000-2007 TOTAL NUMBER OF WEST HIGHLAND WHITE TERRIER 270 221 EXAMINED Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 4 1.48% 1 0.45% EYELIDS DISTICHIASIS 10.45% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 1 0.37% DYSTROPHY--ENDOTHELIAL 10.45% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 1 0.37% UVEA PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 8 2.96% 17 7.69% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 11 4.07% 2 0.90% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 1 0.37% 3 1.36% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 40 14.81% 21 9.50% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 4 1.48% ANTERIOR CORTEX PUNCTATE* 52.26% ANTERIOR CORTEX INTERMEDIATE* 8 2.96% 4 1.81% ANTERIOR CORTEX DIFFUSE* 2 0.74% ANTERIOR CORTEX SUSPICIOUS 1 0.37% ANT. CORTEX PUNCT. SIGN. UNKNOWN 10.45% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 5 1.85% POSTERIOR CORTEX PUNCTATE* 1 0.37% 4 1.81% POSTERIOR CORTEX INTERMEDIATE* 9 3.33% 6 2.71% POSTERIOR CORTEX DIFFUSE* 2 0.74% 2 0.90% POST. CORTEX PUNCT. SIGN. UNKNOWN 2 0.74% 4 1.81% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.74% EQUATORIAL CORTEX PUNCTATE* 3 1.11% EQUATORIAL CORTEX INTERMEDIATE* 2 0.74% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 2 0.74% 1 0.45% ANTERIOR SUTURES INTERMEDIATE* 20.90% ANTERIOR SUTURES SUSPICIOUS 1 0.37% POSTERIOR SUTURES (SIZE UNSPECIFIED)* 4 1.48% POSTERIOR SUTURES PUNCTATE* 2 0.74% 3 1.36% POSTERIOR SUTURES INTERMEDIATE* 3 1.11% POSTERIOR SUTURES SUSPICIOUS 1 0.37% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 6 2.22% 10 4.52% NUCLEUS PUNCTATE* 10.45% NUCLEUS INTERMEDIATE* 3 1.11% 3 1.36% NUCLEUS DIFFUSE* 2 0.74% 1 0.45% NUCLEUS SUSPICIOUS 2 0.74% NUCLEUS PUNCTATE SIGN. UNKNOWN 1 0.37% 3 1.36% ANTERIOR CAPSULE 2 0.74% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.37% ANTERIOR CAPSULE SUSPICIOUS 1 0.37% CAPSULAR INTERMEDIATE 10.45% CAPSULAR SIGN. UNKNOWN 10.45%

WEST HIGHLAND WHITE TERRIER

1991 - 1999 2000-2007 POSTERIOR CAPSULE 2 0.74% POSTERIOR CAPSULE SIGN. UNKNOWN 1 0.37% POSTERIOR CAPSULE SUSPICIOUS 1 0.37% GENERALIZED CATARACT* 8 2.96% 3 1.36% GENERALIZED SUSPICIOUS 1 0.37% VITREOUS DEGENERATION (NO FURTHER SPECIFICATION) 1 0.37% 1 0.45% FUNDUS RETINAL ATROPHY--GENERALIZED 3 1.11% RETINAL ATROPHY--SUSPICIOUS 6 2.22% 2 0.90% RETINAL DYSPLASIA FOCAL/FOLDS 8 2.96% 4 1.81% RETINAL DYSPLASIA GEOGRAPHIC 2 0.74% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.37% RETINAL DETACHMENT 1 0.37% OPTIC NERVE COLOBOMA 10.45% OTHER OTHER, INHERITED 4 1.48% 1 0.45% OTHER, NON -INHERITED 6 2.22% 5 2.26% NORMAL NORMAL 180 66.67% 163 73.76%

WHIPPET

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Persistent pupillary membranes - iris to iris Not defined 2,3 Breeder option - all other forms Not defined 3 NO

B. Cataract Not defined 1 NO

C. Vitreous degeneration - anterior chamber Not defined 1,3,4 Breeder option - syneresis Not defined 1,3,4 Breeder option

Description and Comments

A. Persistent pupillary membranes (PPM)

B. Cataract

C. Vitreous degeneration

A liquefaction of the vitreous gel which may predispose to retinal detachment resulting in blindness. This is a significant problem in this breed, identified in 6.9% of the Whippets reported to CERF 1991-1995.

References

There are no references providing detailed descriptions of hereditary ocular conditions of the Whippet breed. The conditions listed above are generally recognized to exist in this breed, as evidenced by identification on breed eye screening examinations and/or clinical experience of veterinary ophthalmologists.

1. ACVO Genetics Committee, 1999 and/or Data from CERF All-Breeds Report, 1991-1998.

2. ACVO Genetics Committee, 2000-2002 and/or Data from CERF All-Breeds Report, 2000- 2002.

3. ACVO Genetics Committee, 2005 and/or Data from CERF All-Breeds Report, 2003-2004.

4. ACVO Genetics Committee, 2008 and/or Data from CERF All Breeds Report, 2003-2007.

WHIPPET

1991 - 1999 2000-2007 TOTAL NUMBER OF WHIPPET EXAMINED 3170 3928

Diagnosic Name Number Percent Number Percent GLOBE MICROPHTHALMOS 1 0.03% EYELIDS ECTROPION 10.03% DISTICHIASIS 3 0.09% 3 0.08% ECTOPIC CILIA 1 0.03% 1 0.03% CORNEA DYSTROPHY--EPITHELIAL/STROMAL 13 0.41% 12 0.31% DYSTROPHY--ENDOTHELIAL 4 0.13% CHRONIC SUPERFICIAL KERATITIS/INHERITED PANNUS 30.08% UVEA IRIS / CILIARY BODY CYSTS 2 0.06% 9 0.23% PERSISTENT PUPILLARY MEMBRANES IRIS TO IRIS 25 0.79% 29 0.74% PERSISTENT PUPILLARY MEMBRANES IRIS TO LENS 3 0.09% 5 0.13% PERSISTENT PUPILLARY MEMBRANES IRIS TO CORNEA 3 0.09% 3 0.08% PERSISTENT PUPILLARY MEMBRANES IRIS SHEETS 1 0.03% 14 0.36% ENDOTHELIAL PIGMENT/NO PPM 10.03% LENS ANY CATARACT DIAGNOSED (MARKED WITH *) 66 2.08% 93 2.37% ANTERIOR CORTEX (SIZE UNSPECIFIED)* 6 0.19% ANTERIOR CORTEX PUNCTATE* 11 0.35% 13 0.33% ANTERIOR CORTEX INTERMEDIATE* 16 0.50% 20 0.51% ANTERIOR CORTEX SUSPICIOUS 3 0.09% ANT. CORTEX PUNCT. SIGN. UNKNOWN 30 0.95% 48 1.22% ANTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% POSTERIOR CORTEX (SIZE UNSPECIFIED)* 1 0.03% POSTERIOR CORTEX PUNCTATE* 6 0.19% 6 0.15% POSTERIOR CORTEX INTERMEDIATE* 11 0.35% 17 0.43% POSTERIOR CORTEX DIFFUSE* 2 0.06% 2 0.05% POST. CORTEX PUNCT. SIGN. UNKNOWN 12 0.38% 9 0.23% POSTERIOR CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% EQUATORIAL CORTEX (SIZE UNSPECIFIED)* 2 0.06% EQUATORIAL CORTEX PUNCTATE* 8 0.25% 5 0.13% EQUATORIAL CORTEX INTERMEDIATE* 10 0.32% 22 0.56% EQUATORIAL CORTEX DIFFUSE* 2 0.06% EQUATORIAL CORTEX SUSPICIOUS 1 0.03% EQUATORIAL CORTEX PUNCT. SIGN. UNKNOWN 15 0.47% 20 0.51% EQUATORIAL CORTEX INTERMEDIATE SIGN. UNKNOWN 10.03% ANTERIOR SUTURES PUNCTATE* 1 0.03% 3 0.08% ANTERIOR SUTURES INTERMEDIATE* 10.03% ANTERIOR SUTURES PUNCT. SIGN. UNKNOWN 7 0.22% 8 0.20% POSTERIOR SUTURES PUNCTATE* 20.05% POSTERIOR SUTURES INTERMEDIATE* 5 0.16% 3 0.08% POSTERIOR SUTURES PUNCT. SIGN. UNKNOWN 14 0.44% 16 0.41% NUCLEUS PUNCTATE* 4 0.13% 10 0.25% NUCLEUS INTERMEDIATE* 1 0.03% 9 0.23%

WHIPPET

1991 - 1999 2000-2007 NUCLEUS DIFFUSE* 20.05% NUCLEUS PUNCTATE SIGN. UNKNOWN 3 0.09% 26 0.66% ANTERIOR CAPSULE 1 0.03% ANTERIOR CAPSULE SIGN. UNKNOWN 1 0.03% CAPSULAR INTERMEDIATE 15 0.38% CAPSULAR DIFFUSE 10.03% CAPSULAR SIGN. UNKNOWN 8 0.25% 18 0.46% POSTERIOR CAPSULE 1 0.03% POSTERIOR CAPSULE SIGN. UNKNOWN 2 0.06% GENERALIZED CATARACT* 1 0.03% 2 0.05% SUBLUXATION/LUXATION 13 0.41% 15 0.38% VITREOUS PERSISTENT HYALOID ARTERY 4 0.13% 8 0.20% PHPV/PTVL 5 0.16% 2 0.05% DEGENERATION (NO FURTHER SPECIFICATION) 175 5.52% 163 4.15% DEGENERATION ANTERIOR CHAMBER 30 0.76% DEGENERATION SYNERESIS 44 1.12% FUNDUS RETINAL ATROPHY--GENERALIZED 8 0.25% 16 0.41% RETINAL ATROPHY--SUSPICIOUS 6 0.19% 5 0.13% RETINAL DYSPLASIA FOCAL/FOLDS 4 0.13% 16 0.41% RETINAL DYSPLASIA GEOGRAPHIC 1 0.03% 1 0.03% RETINAL DYSPLASIA GENERALIZED/DETACHED 1 0.03% 1 0.03% CHOROIDAL HYPOPLASIA 80.20% STAPHYLOMA / COLOBOMA 40.10% RETINAL DETACHMENT 1 0.03% 3 0.08% OPTIC NERVE COLOBOMA 5 0.16% 8 0.20% OPTIC NERVE HYPOPLASIA/MICROPAPILLA 2 0.06% OPTIC NERVE HYPOPLASIA 10.03% MICROPAPILLA 20.05% OTHER OTHER, INHERITED 25 0.79% 5 0.13% OTHER, NON -INHERITED 26 0.82% 169 4.30% NORMAL NORMAL 2778 87.63% 3452 87.88%

WIRE FOX TERRIER*

*The wire fox terrier and the smooth fox terrier were originally considered two varieties of the same breed. They became separate breeds in 1985. It is likely that the same genetic diseases exist in both breeds

DISORDER INHERITANCE REFERENCE BREEDING ADVICE

A. Glaucoma Not defined 1,2 NO

B. Cataract Not defined 1 NO

C. Lens luxation Not defined 1,3-6 NO

D. Persistent pupillary membranes iris to iris Not defined 7,8 Breeder option iris to lens Not defined 7 NO iris to cornea Not defined 7 NO

Description and Comments

A. Glaucoma

B. Cataract

A partial or complete opacity of the lens and/or its capsule. In cases where cataracts are complete and affect both eyes, blindness results. The prudent approach is to assume cataracts to be hereditary except in cases known to be associated with trauma, other causes of ocular inflammation, specific metabolic diseases, persistent pupillary membrane, persistent hyaloid or nutritional deficiencies. Cataracts may involve the lens completely (diffuse) or in a localized region. The cataracts observed in this breed begin in the posterior subcapsular region and are progressive.