DOCSLIB.ORG

Congenital Cornea Plana in Finland

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Congenital Cornea Plana in Finland Clinical Genetics 1913: 4: 301-310 Congenital cornea plana in Finland A. W. ERIKSSON,W. LEHMANN,AND H. FORSIUS Folkhalsan Institute of Genetics, Population Genetics Unit, Helsinki; Institute of Human Genetics, University of Kiel, Kiel; University of Oulu Eye Hospital, Oulu, Finland Two different hereditary forms of congenital cornea plana are described: an autosomal dominant form with relatively mild symptoms, and an autosomal recessive form (CPCR) with more severe symptoms, such as decreased visual acuity, extreme hyperopia (total refraction usually 10 D or more), hazy limbus corneae, more or less pronounced opacities in the corneal parenchyma, and marked arcus senilk, often detectable at an early age. As far as can be judged from the number of cases hitherto published, cornea plana is a rare disease. In Finland, 49 caw of the recessive and seven of the dominant form of cornea plana congenita have been discovered to date, which is about twice the number of cases of recessively inherited cornea plana reported elsewhere in the world. In Finnish Lapland, the gene frequency of cornea plana congenita recessiva is estimated to be 1.3 (about 16 patients per 100,000 inhabi- tants), or about four times as high as in Finland as a whole. Around the lower reaches of the River Kemijoki there is a relatively high prevalence of the recessive form of the disease. The Kemijoki pedigree includes 25 patients related to each other through their ancestors. Accepted for publication 31 Junuury 1973 The descriptive name cornea plana does not Rudiments of a corneal limbus appear at the quite correspond to the ocular findings in end of the second month (fetal length 25-30 the disease in question. The cornea is not mm), but a difference in curvature between flat, but its radius is larger than normal and the cornea and sclera only becomes discern- involves a continuation of the curved sur- ible during the third month (fetal length face of the sclera over the area of the 45-50 mm), and the borderline between cornea. these two tissues is not distinct until the end Congenital cornea plana seems to be a of the third month (fetal length 65 mm). The rare anomaly. Only one to three cases are development of the angle of the anterior described in most reports. If more or less chamber is considerably slower. This struc- the same phenotype can be caused by ture does not attain its final shape until after both a recessive and a dominant gene, the birth. It can thus be concluded that the phenotype caused by the dominant gene is gene causing cornea plana influences devel- generally manifested by milder symptoms. opment in the 12th embryonic week, when This applies also to cornea plana. the bulb is attaining its final shape. In this disease, the corneal anlage deviates from the normal, as is also proved by the thinness of Pathogenesis the cornea and the differences in thickness The first rudiments of a cornea can be dis- between its various portions. In many in- tinguished in the fourth to fifth embryonic stances fibers run from the iris into the cen- weeks, when the embryo measures 7-9 mm. tral portion of the cornea. By contrast, the 3 02 ERIKSSON, LEHMANN, AND FORSIUS iridocorneal angle is usually normal, in spite of a low anterior chamber, and increased intraocular pressure is not typically asso-> ciated with cornea plana, although it does occur. The corneal tissue is derived from both the mesoderm and the ectoderm. Hence, pathological changes in the limbus and cornea may theoretically originate in both of these structures. Abnormal flatness of the cornea also occurs in connection with devel- opmental disturbances of a different genesis. A lengthened sclerocorneal zone and slight flatness of the cornea are often seen in cases of aniridia, for instance. In patients with coloboma uveae the cornea is sometimes not only unusually small, but also flat. Corneal flatness has been reported in Hurler’s dis- ease, Lobstein’s syndrome and DI trisomy (FranGois 1965). The mode of inheritance varies. Severe inflammation of the cornea and sclera may also cause flattening of the cornea. Clinical Picture As a rule, cornea plana congenita recessiva (CPCR) is readily identified by the following typical signs: Fig. lb. Slit lamp photograph of the anterior portion of one eye of the patient shown in Fig. 1. The ante- rior chamber is extremely flat and the pupil is dis- located. I) The sclerocorneal zone is lengthened, which results in superficial haziness of a broad area in the limbus. The borderline between the sclera and cornea is indistinct. The cornea is either seemingly or actually unusually small (Figs. 1 a and 2).Arcus senilis often occurs at an early age. 2) A round grey area, about 5 mm broad, is seen centrally in the cornea (Figs. la and 2). The cornea is thin at the margin of this area and thicker at the middle (Figs. lb and FIg. la. Left eye of an 11-year-old boy wlth recessive 2). The parenchyma of this disc-shaped cen- congenital cornea plana (case 18). His mother (case 13) also has cornea plana. tral area is more opaque than in other sites. CONGENITAL CORNEA PLANA IN FINLAND 303 Fig. 2. Extreme arcus senilis in the left eye of a 67-year-old female (case 30) with congenital cornea plana. 3) The corneal radius is larger than nor- 4) The cornea is thinner than normal. mal. The anterior portion of the eye (cor- 5) The eyelid often droops slightly (Fig. nea) is therefore less prominent or forward 3). bulging than normal when seen from the Minor differences in the clinical picture side (Figs. lb and 2). occur between the two eyes of the same subject and between different members of the same family. In mild cases, visual acuity is 0.6-0.8. In severe cases other anomalies of the bulb are also present, such as mal- formations of the iris, a slit-like pupil, or adhesions between the iris and cornea. Ab- sence of the lens has been described, and blindness sometimes occurs. In our series of 49 cases of recessive cornea plana, three patients were blind. Material and Results Forsius discovered the first cases of cornea plana in Finland in 1953, when practicing Fig. 3. Slight ptosis palpebrae congenita is often as- sociated with cornea plana. as an ophthalmologist at Kemi in Finnish 3 04 ERIKSSON, LEHMANN, AND FORSIUS I tected in two families. Patients with the el709 milder, dominant form do not exhibit the central opacity of the cornea which is typical ep of patients with the recessive form. Corneal refraction deviates from the normal by only 5-8 D. Both of the above-mentioned fami- lies have many ancestors traceable to the rural community of Jalasjarvi, in the west of central Finland, and we have recently suc- ceeded in proving that the two families have some common ancestors (Fig. 4). Families showing the dominant form of cornea plana have previously been described by Waarden- burg (1930), Barkan & Borley (1936), Ga- CORNEA PLANA (DOMINANT) steiger (1945) and Larsen & Eriksen (1949). Recessive form. Recessively inherited cor- nea plana has been observed by us in a B50 BLIND AT 50 total of 49 subjects in 32 sibships. Corneal refraction varies widely. The lowest reading for corneal refraction is 23 D, and values under 34 D predominate. A few members of these families have a nearly normal corneal refraction. These subjects are marked in the pedigrees as cases of CPCR if the cornea shows other typical signs. Although patients with cornea plana were sought in Helsinki in 1953-63 just as actively as in Oulu from Fig. 4. Pedigree of two families with the dominant 1964 onwards, only eight patients with form of cornea plana. CPCR, belonging to seven different families, have been found south of the County of Lapland. Since then, he has systematically Oulu; the remaining 41 patients trace their recorded such cases when they occurred origin to north Finland. The geographical among his private patients at the Ophthal- distribution of the cases and their parents mological Department of Helsinki Univer- suggests that the frequency of the CPCR sity Central Hospital and, later, at the Eye gene is much higher in north Finland than Department of Oulu University. Through the in the south (Fig. 5). courtesy of colleagues we have obtained No symptoms or signs have been ob- data on additional families affected with this served in the parents of our patients with disease. Our results have been published in CPCR. An exception to this rule is the a number of reports (Forsius 1961, Forsius second family from the left in the pedigree & Lehmann 1962, Forsius & von Fieandt in Fig. 6 (Family Meh.), which includes two 1963, Forsius & Eriksson 1972). At present cases (17 and 18) in which CPCR is present our material consists of 34 sibships com- in the mother and two children. It seems prising 56 cases of cornea plana. probable, however, that the father also has Dominant form. Seven cases of the domi- the CPCR allele. The father comes from nant form of cornea plana have been de- another community than the mother, but CONGENITAL CORNEA PLANA IN FINLAND 3 05 , , > /, ,. 2, 1 2. 2-3 't I, ~~ ~- j. TILASTOKARTTA eC0RNEAPLANA CUNGENITA RECESSIVA ICPC Rl ns1BsHIPs 0 @PARENTS OF CPCR PATIENTS L Jl ,,P? w ..........,.."" .......... ....~ ............................ U.S.S.R. ERIKSSON, LEHMANN, AND FORSIUS 8 n n U 0- ~ 5 5 x x CONGENITAL CORNEA PLANA IN FINLAND 307 his paternal grandfather had the same sur- JACOB name and came from the same village as I 4'.-1698 -1702 one of the ancestors of family Hei.
Load more

Recommended publications
  • Corneal Ectasia
    Corneal Ectasia Secretary for Quality of Care Anne L. Coleman, MD, PhD Academy Staff Nicholas P. Emptage, MAE Nancy Collins, RN, MPH Doris Mizuiri Jessica Ravetto Flora C. Lum, MD Medical Editor: Susan Garratt Design: Socorro Soberano Approved by: Board of Trustees September 21, 2013 Copyright © 2013 American Academy of Ophthalmology® All rights reserved AMERICAN ACADEMY OF OPHTHALMOLOGY and PREFERRED PRACTICE PATTERN are registered trademarks of the American Academy of Ophthalmology. All other trademarks are the property of their respective owners. This document should be cited as follows: American Academy of Ophthalmology Cornea/External Disease Panel. Preferred Practice Pattern® Guidelines. Corneal Ectasia. San Francisco, CA: American Academy of Ophthalmology; 2013. Available at: www.aao.org/ppp. Preferred Practice Pattern® guidelines are developed by the Academy’s H. Dunbar Hoskins Jr., MD Center for Quality Eye Care without any external financial support. Authors and reviewers of the guidelines are volunteers and do not receive any financial compensation for their contributions to the documents. The guidelines are externally reviewed by experts and stakeholders before publication. Corneal Ectasia PPP CORNEA/EXTERNAL DISEASE PREFERRED PRACTICE PATTERN DEVELOPMENT PROCESS AND PARTICIPANTS The Cornea/External Disease Preferred Practice Pattern® Panel members wrote the Corneal Ectasia Preferred Practice Pattern® guidelines (“PPP”). The PPP Panel members discussed and reviewed successive drafts of the document, meeting in person twice and conducting other review by e-mail discussion, to develop a consensus over the final version of the document. Cornea/External Disease Preferred Practice Pattern Panel 2012–2013 Robert S. Feder, MD, Co-chair Stephen D. McLeod, MD, Co-chair Esen K.
    [Show full text]
  • Expanding the Phenotypic Spectrum of PAX6 Mutations: from Congenital Cataracts to Nystagmus
    G C A T T A C G G C A T genes Article Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus Maria Nieves-Moreno 1,* , Susana Noval 1 , Jesus Peralta 1, María Palomares-Bralo 2 , Angela del Pozo 3 , Sixto Garcia-Miñaur 4, Fernando Santos-Simarro 4 and Elena Vallespin 5 1 Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.N.); [email protected] (J.P.) 2 Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 3 Department of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 4 Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.G.-M.); [email protected] (F.S.-S.) 5 Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] * Correspondence: [email protected] Abstract: Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families Citation: Nieves-Moreno, M.; Noval, with confirmed mutations in PAX6, and very different clinical manifestations.
    [Show full text]
  • Journal of Ophthalmology & Clinical Research
    ISSN: 2573-9573 Case Report Journal of Ophthalmology & Clinical Research Bilateral Congenital Ectropion Uveae, Anterior Segment Dysgenesis and Aniridia with Microspherophakic Congenital Cataracts and RubeosisIridis Rao Muhammad Arif Khan* and Ashal Kaiser Pal *Corresponding author Rao Muhammad Arif Khan, MCPS, FCPS, FPO, FACS, Pediatric Ophthalmologist, King Edward Medical University, Al-Awali Street, Taif Road, Makkah, Saudi Arabia, Pediatric Ophthalmologist, King Edward Medical University, Tel: 00966560479694; E-mail: [email protected] Makkah, Saudi Arabia Submitted: 02 Apr 2018; Accepted: 12 Apr 2018; Published: 19 Apr 2018 Abstract In recent times, multiple eye diseases have been seen associated with an increase in the rate of Demodex infestation as a possible cause, but in the particular case of dry eye syndrome in patients treated with platelet-rich plasma, this increase in mite may be relevant to guide a more adequate treatment focusing on the elimination of the mite in conjunction with the recovery of the ocular ecology. The demodex mite is a commensal parasite that lives in hair follicles, sebaceous glands and meibomian, which in a high rate of infestation can generate alterations in the ocular area. Performing an adequate diagnosis for the detection of the mite and treatment for its eradication can be effective for the recovery of the normal physiology of the tear film that constitutes a cause of dry eye. Introduction Congenital ectropion uvea is a rare ocular manifestation of neural crest syndrome [1]. It is a non-progressive anomaly characterized by presence of iris pigment epithelium on anterior surface of iris from the pigment ruff [2]. Congenital glaucoma is its common association [3-8].
    [Show full text]
  • Congenital Ocular Anomalies in Newborns: a Practical Atlas
    www.jpnim.com Open Access eISSN: 2281-0692 Journal of Pediatric and Neonatal Individualized Medicine 2020;9(2):e090207 doi: 10.7363/090207 Received: 2019 Jul 19; revised: 2019 Jul 23; accepted: 2019 Jul 24; published online: 2020 Sept 04 Mini Atlas Congenital ocular anomalies in newborns: a practical atlas Federico Mecarini1, Vassilios Fanos1,2, Giangiorgio Crisponi1 1Neonatal Intensive Care Unit, Azienda Ospedaliero-Universitaria Cagliari, University of Cagliari, Cagliari, Italy 2Department of Surgery, University of Cagliari, Cagliari, Italy Abstract All newborns should be examined for ocular structural abnormalities, an essential part of the newborn assessment. Early detection of congenital ocular disorders is important to begin appropriate medical or surgical therapy and to prevent visual problems and blindness, which could deeply affect a child’s life. The present review aims to describe the main congenital ocular anomalies in newborns and provide images in order to help the physician in current clinical practice. Keywords Congenital ocular anomalies, newborn, anophthalmia, microphthalmia, aniridia, iris coloboma, glaucoma, blepharoptosis, epibulbar dermoids, eyelid haemangioma, hypertelorism, hypotelorism, ankyloblepharon filiforme adnatum, dacryocystitis, dacryostenosis, blepharophimosis, chemosis, blue sclera, corneal opacity. Corresponding author Federico Mecarini, MD, Neonatal Intensive Care Unit, Azienda Ospedaliero-Universitaria Cagliari, University of Cagliari, Cagliari, Italy; tel.: (+39) 3298343193; e-mail: [email protected].
    [Show full text]
  • Eleventh Edition
    SUPPLEMENT TO April 15, 2009 A JOBSON PUBLICATION www.revoptom.com Eleventh Edition Joseph W. Sowka, O.D., FAAO, Dipl. Andrew S. Gurwood, O.D., FAAO, Dipl. Alan G. Kabat, O.D., FAAO Supported by an unrestricted grant from Alcon, Inc. 001_ro0409_handbook 4/2/09 9:42 AM Page 4 TABLE OF CONTENTS Eyelids & Adnexa Conjunctiva & Sclera Cornea Uvea & Glaucoma Viitreous & Retiina Neuro-Ophthalmic Disease Oculosystemic Disease EYELIDS & ADNEXA VITREOUS & RETINA Blow-Out Fracture................................................ 6 Asteroid Hyalosis ................................................33 Acquired Ptosis ................................................... 7 Retinal Arterial Macroaneurysm............................34 Acquired Entropion ............................................. 9 Retinal Emboli.....................................................36 Verruca & Papilloma............................................11 Hypertensive Retinopathy.....................................37 Idiopathic Juxtafoveal Retinal Telangiectasia...........39 CONJUNCTIVA & SCLERA Ocular Ischemic Syndrome...................................40 Scleral Melt ........................................................13 Retinal Artery Occlusion ......................................42 Giant Papillary Conjunctivitis................................14 Conjunctival Lymphoma .......................................15 NEURO-OPHTHALMIC DISEASE Blue Sclera .........................................................17 Dorsal Midbrain Syndrome ..................................45
    [Show full text]
  • An Operation for Congenital Ptosis by George Young
    Br J Ophthalmol: first published as 10.1136/bjo.8.6.272 on 1 June 1924. Downloaded from 272 THE BRITISH JOURNAL OF OPHTHALMIOI,OGY added plus lenses (eye being under atropin), J.2, fluently. This made her left eye equal, for distance, to her better eye, which is now getting worse owing to increased bulging, and will probably follow the course of the other one soon. R.V.: 6/36, c. -1.OD sph. + 3.50D cyl. 1550: 6/24 and J.5. Furthermore, it may be noted that the intraocular tension was now normal on the side of the iridectomy, while the right eye was hard, and I submitted it again to pilocarpin and bandage at night. I sent her home for a fortnight to feed up, take malt and cod liver oil and fats, and to take plenty of rest and recuperate. On July 8 the final result was: L.V.: 6/36, c.-5.OD sph. +3.50D cyl. 1600: 6/12 full, and -3.OD sph. and +3.50D cyl. J.2. Soon I shall tattoo the stellate leucoma with an artificial pupil. May 10, 1924. Since writing the above, some ten months ago, affairs have kept steady. There is no bulging of the left cornea or scar. I attempted tattooing at two sittings, and have considerably diminished the glare of the scar, but I refrain from risking the deep tattooing necessary for securing an imitation round black pupil, fearing to do harm. Glasses were prescribed and worn with comfort and great help, the vision being maintained as above.
    [Show full text]
  • Aniridia in Children
    Aniridia in Children This material will help you understand aniridia and how it is treated. What is aniridia? Aniridia is an eye disorder where the iris is completely or partially absent. The iris is the colored part of the eye that surrounds the black pupil. People with aniridia have large pupils. The condition affects both eyes. How does aniridia affect my child’s eyesight? Aniridia alone does not affect your child’s visual acuity. Some children with aniridia have very good vision (20/30 or better) whereas others have very poor vision (20/200 or worse). However, because aniridia causes the pupils to be large, your child may have sensitivity to light and glare. Aniridia is also associated with other eye conditions including: • Cataracts (clouding of the eye lens) • Glaucoma (increased eye pressure) • Nystagmus (wobbly eyes) • Scarring of the cornea (the front of the eye) What causes aniridia? Aniridia is caused by a genetic mutation. The mutation affects the PAX6 gene, which is involved in the early development of the eyes, brain, spinal cord, and pancreas. There are different ways that the mutation can be inherited. In some cases, aniridia is part of a syndrome. A syndrome is a group of medical conditions that occur together. The following syndromes involve aniridia: • Miller syndrome (aniridia and Wilm’s (kidney) tumor) • WAGR syndrome (Wilm’s (kidney) tumor, aniridia, genital abnormalities, and mental retardation) Kellogg Eye Center Aniridia 1 • Gillepsie’s syndrome (aniridia, mental retardation, and balance problems) How is aniridia treated? Glasses or contacts can help your child see more clearly. There are special types of glasses and contacts available that can also help reduce sensitivity to light.
    [Show full text]
  • The Management of Congenital Malpositions of Eyelids, Eyes and Orbits
    Eye (\988) 2, 207-219 The Management of Congenital Malpositions of Eyelids, Eyes and Orbits S. MORAX AND T. HURBLl Paris Summary Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malpositions such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbi­ tal plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos) . Congenital malformations of the eye and its as echography, CT-scan and NMR, enzymatic adnexa are multiple and varied. They can work-up or genetic studies (Table I). affect the whole eyeball or any part of it, as Surgical treatment when feasible will well as the orbit, eyelids, lacrimal ducts extra­ encounter numerous problems; age will play a ocular muscles and conjunctiva. role, choice of a surgical protocol directly From the anatomical point of view, the fol­ related to the existing complaints, and coop­ lowing can be considered. eration between several surgical teams Position abnormalities (malpositions) of (ophthalmologic, plastic, cranio-maxillo-fac­ one or more elements and formation abnor­ ial and neurosurgical), the ideal being to treat malities (malformations) of the same organs. Some of these abnormalities are limited to Table I The manag ement of cong enital rna/positions one organ and can be subjected to a relatively of eyelid s, eyes and orbits simple and well recognised surgical treat­ Ocular Findings: ment.
    [Show full text]
  • Ocular Colobomaâ
    Eye (2021) 35:2086–2109 https://doi.org/10.1038/s41433-021-01501-5 REVIEW ARTICLE Ocular coloboma—a comprehensive review for the clinician 1,2,3 4 5 5 6 1,2,3,7 Gopal Lingam ● Alok C. Sen ● Vijaya Lingam ● Muna Bhende ● Tapas Ranjan Padhi ● Su Xinyi Received: 7 November 2020 / Revised: 9 February 2021 / Accepted: 1 March 2021 / Published online: 21 March 2021 © The Author(s) 2021. This article is published with open access Abstract Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional—having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great 1234567890();,: 1234567890();,: extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications.
    [Show full text]
  • Upper Eyelid Ptosis Revisited Padmaja Sudhakar, MBBS, DNB (Ophthalmology) Qui Vu, BS, M3 Omofolasade Kosoko-Lasaki, MD, MSPH, MBA Millicent Palmer, MD
    ® AmericAn JournAl of clinicAl medicine • Summer 2009 • Volume Six, number Three 5 Upper Eyelid Ptosis Revisited Padmaja Sudhakar, MBBS, DNB (Ophthalmology) Qui Vu, BS, M3 Omofolasade Kosoko-Lasaki, MD, MSPH, MBA Millicent Palmer, MD Abstract Epidemiology of Ptosis Blepharoptosis, commonly referred to as ptosis is an abnormal Although ptosis is commonly encountered in patients of all drooping of the upper eyelid. This condition has multiple eti- ages, there are insufficient statistics regarding the prevalence ologies and is seen in all age groups. Ptosis results from a con- and incidence of ptosis in the United States and globally.2 genital or acquired weakness of the levator palpebrae superioris There is no known ethnic or sexual predilection.2 However, and the Muller’s muscle responsible for raising the eyelid, dam- there have been few isolated studies on the epidemiology of age to the nerves which control those muscles, or laxity of the ptosis. A study conducted by Baiyeroju et al, in a school and a skin of the upper eyelids. Ptosis may be found isolated, or may private clinic in Nigeria, examined 25 cases of blepharoptosis signal the presence of a more serious underlying neurological and found during a five-year period that 52% of patients were disorder. Treatment depends on the underlying etiology. This less than 16 years of age, while only 8% were over 50 years review attempts to give an overview of ptosis for the primary of age. There was a 1:1 male to female ratio in the study with healthcare provider with particular emphasis on the classifica- the majority (68%) having only one eye affected.
    [Show full text]
  • Clinical Manifestations of Congenital Aniridia
    Clinical Manifestations of Congenital Aniridia Bhupesh Singh, MD; Ashik Mohamed, MBBS, M Tech; Sunita Chaurasia, MD; Muralidhar Ramappa, MD; Anil Kumar Mandal, MD; Subhadra Jalali, MD; Virender S. Sangwan, MD ABSTRACT Purpose: To study the various clinical manifestations as- were subluxation, coloboma, posterior lenticonus, and sociated with congenital aniridia in an Indian population. microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma Methods: In this retrospective, consecutive, observa- was identified in 95 of 262 (36.3%) eyes, and foveal hy- tional case series, all patients with the diagnosis of con- poplasia could be assessed in 230 of 262 (87.7%) eyes. genital aniridia seen at the institute from January 2005 Median age when glaucoma and cataract were noted to December 2010 were reviewed. In all patients, the was 7 and 14 years, respectively. None of the patients demographic profile, visual acuity, and associated sys- had Wilm’s tumor. temic and ocular manifestations were studied. Conclusions: Congenital aniridia was commonly as- Results: The study included 262 eyes of 131 patients sociated with classically described ocular features. with congenital aniridia. Median patient age at the time However, systemic associations were characteristically of initial visit was 8 years (range: 1 day to 73 years). Most absent in this population. Notably, cataract and glau- cases were sporadic and none of the patients had par- coma were seen at an early age. This warrants a careful ents afflicted with aniridia. The most common anterior evaluation and periodic follow-up in these patients for segment abnormality identified was lenticular changes.
    [Show full text]
  • Hereditary Hearing Impairment with Cutaneous Abnormalities
    G C A T T A C G G C A T genes Review Hereditary Hearing Impairment with Cutaneous Abnormalities Tung-Lin Lee 1 , Pei-Hsuan Lin 2,3, Pei-Lung Chen 3,4,5,6 , Jin-Bon Hong 4,7,* and Chen-Chi Wu 2,3,5,8,* 1 Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan; [email protected] 2 Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan; [email protected] 3 Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan; [email protected] 4 Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan 5 Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan 6 Department of Internal Medicine, National Taiwan University Hospital, Taipei 10041, Taiwan 7 Department of Dermatology, National Taiwan University Hospital, Taipei City 100, Taiwan 8 Department of Medical Research, National Taiwan University Biomedical Park Hospital, Hsinchu City 300, Taiwan * Correspondence: [email protected] (J.-B.H.); [email protected] (C.-C.W.) Abstract: Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications.
    [Show full text]