Medical Terminology
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Hereditary Nystagmus in Early Childhood
J Med Genet: first published as 10.1136/jmg.7.3.253 on 1 September 1970. Downloaded from Journal of Medical Genetics (1970). 7, 253. Hereditary Nystagmus in Early Childhood BRIAN HARCOURT* Nystagmus is defined as a rhythmic involuntary clinical characteristics of various types of hereditary movement of the eyes, and as an acquired pheno- nystagmus and the techniques which are available menon arising in later childhood or in adult life is to differentiate between 'idiopathic' nystagmus and usually a symptom of serious neurological or laby- nystagmus as a symptom of an occult disorder of the rinthine disease; in such cases the movements of the visual apparatus in early childhood, some descrip- eyes commonly produce subjective symptoms of tion of the modes of inheritance and of the long- objects moving in the visual panorama (oscillopsia). term visual prognosis are given in the various Nystagmus may also be 'congenital', or, more categories of infantile nystagmus which can be so accurately, may first be observed within a few weeks defined. of birth when the infant begins to attempt to fix and to follow visually stimulating targets by means of Character of Nystagmus conjugate movements of the eyes. In such cases, Though it is not usually possible to arrive at the nystagmus may persist throughout life, but even an exact diagnosis of the cause of nystagmus by ob- at a later stage there is always a complete absence of servation of the eye movements alone, a great deal of the symptom of oscillopsia. Nystagmus which useful information can be obtained by such a study. -
Treacher Collins Prize Essay the Significance of Nystagmus
Eye (1989) 3, 816--832 Treacher Collins Prize Essay The Significance of Nystagmus NICHOLAS EVANS Norwich Introduction combined. The range of forms it takes, and Ophthalmology found the term v!to"[<xy!too, the circumstances in which it occurs, must be like many others, in classical Greece, where it compared and contrasted in order to under described the head-nodding of the wined and stand the relationships between nystagmus of somnolent. It first acquired a neuro-ophthal different aetiologies. An approach which is mological sense in 1822, when it was used by synthetic as well as analytic identifies those Goodl to describe 'habitual squinting'. Since features which are common to different types then its meaning has been refined, and much and those that are distinctive, and helps has been learned about the circumstances in describe the relationship between eye move which the eye oscillates, the components of ment and vision in nystagmus. nystagmus, and its neurophysiological, Nystagmus is not properly a disorder of eye neuroanatomic and neuropathological corre movement, but one of steady fixation, in lates. It occurs physiologically and pathologi which the relationship between eye and field cally, alone or in conjunction with visual or is unstable. The essential significance of all central nervous system pathology. It takes a types of nystagmus is the disturbance in this variety of different forms, the eyes moving relationship between the sensory and motor about one or more axis, and may be conjugate ends of the visual-oculomotor axis. Optimal or dysjugate. It can be modified to a variable visual performance requires stability of the degree by external (visual, gravitational and image on the retina, and vision is inevitably rotational) and internal (level of awareness affected by nystagmus. -
Macular Dystrophies Mimicking Age-Related Macular Degeneration
Progress in Retinal and Eye Research 39 (2014) 23e57 Contents lists available at ScienceDirect Progress in Retinal and Eye Research journal homepage: www.elsevier.com/locate/prer Macular dystrophies mimicking age-related macular degeneration Nicole T.M. Saksens a,1,2,7, Monika Fleckenstein b,1,3,7, Steffen Schmitz-Valckenberg b,4,7, Frank G. Holz b,3,7, Anneke I. den Hollander a,5,7, Jan E.E. Keunen a,5,7, Camiel J.F. Boon a,c,d,5,6,7, Carel B. Hoyng a,*,7 a Department of Ophthalmology, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX Nijmegen, The Netherlands b Department of Ophthalmology, University of Bonn, Ernst-Abbe-Str. 2, Bonn, Germany c Oxford Eye Hospital and Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, West Wing, Headley Way, Oxford OX3 9DU, United Kingdom d Department of Ophthalmology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands article info abstract Article history: Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in the elderly Available online 28 November 2013 population in the Western world. AMD is a clinically heterogeneous disease presenting with drusen, pigmentary changes, geographic atrophy and/or choroidal neovascularization. Due to its heterogeneous Keywords: presentation, it can be challenging to distinguish AMD from several macular diseases that can mimic the Age-related macular degeneration features of AMD. This clinical overlap may potentially lead to misdiagnosis. In this review, we discuss the AMD characteristics of AMD and the macular dystrophies that can mimic AMD. The appropriate use of clinical Macular dystrophy and genetic analysis can aid the clinician to establish the correct diagnosis, and to provide the patient Differential diagnosis Retina with the appropriate prognostic information. -
Lacrimal Obstruction
Yung_edit_final_Layout 1 01/09/2009 15:19 Page 81 Lacrimal Obstruction Proximal Lacrimal Obstruction – A Review Carl Philpott1 and Matthew W Yung2 1. Rhinology and Anterior Skull Base Fellow, St Paul’s Sinus Centre, St Paul’s Hospital, Vancouver; 2. Department of Otolaryngology, Ipswich Hospital NHS Trust Abstract While less common than distal lacrimal obstruction, proximal obstruction causes many cases of epiphora. This article examines the aetiology of proximal lacrimal obstruction and considers current management strategies with reference to recent literature. The Lester Jones tube is the favoured method of dealing with most cases of severe proximal obstruction; other methods have been tried with less success. Keywords Proximal lacrimal obstruction, epiphora, canalicular blockage, Lester Jones tube Disclosure: The authors have no conflicts of interest to declare. Received: 31 March 2009 Accepted: 14 April 2009 DOI: 10.17925/EOR.2009.03.01.81 Correspondence: Matthew W Yung, The Ipswich Hospital, Heath Road, Ipswich, Suffolk, IP4 5PD, UK. E: [email protected] Obstruction of the lacrimal apparatus commonly causes sufferers to dominant fashion.3 Where absence of the punctum and papilla present with symptoms of epiphora, for which they are commonly (congenital punctal agenesis) occurs, it is likely that more distal parts referred to ophthalmology departments. In those units where of the lacrimal apparatus are obliterated. collaboration with otorhinolaryngology occurs, the distal site of obstruction is usually dealt with. -
Infantile Aphakia and Successful Fitting of Pediatric Contact Lenses; a Case Presentation Authors: Virji N, Patel A, Libassi D
Infantile aphakia and successful fitting of pediatric contact lenses; a case presentation Authors: Virji N, Patel A, Libassi D An eleven month old male presents with bilateral aphakia secondary to congenital cataracts. The patient is currently successfully wearing B&L Silsoft Pediatric contact lenses, with good prognosis for vision in both eyes. I. Case History -Patient demographics: African American male, DOB 8/18/2009 -Chief complaint: patient presents with bilateral aphakia secondary to bilateral congenital cataract extraction -Ocular, medical history: S/P CE with anterior vitrectomy OD 09/22/2009, followed by OS 09/29/09. (+) squinting, rubs eyes, light sensitivity -Medications: none -Other salient information: patient has been seen by SUNY Contact Lens clinic since 2 months old, 10/14/2009 II. Pertinent findings -Clinical: Keratometry readings 41.00/41.25 @ 005 OD, 38.50/41.00 @ 046 Axial length, immeasurable Horizontal corneal diameter 8mm OD/OS Fundus exam WNL OU -Others: surgical dates: successful CE OU, September 2009 III. Differential diagnosis -Primary/leading: Idiopathic -Others: Posterior lenticonus, persistent hyperplastic primary vitreous, anterior segment dysgenesis, and posterior pole tumors, trauma, intrauterine infection (rubella), maternal hypoglycemia, trisomy (eg, Down, Edward, and Patau syndromes), myotonic dystrophy, infectious diseases (eg, toxoplasmosis, rubella, cytomegalovirus, and herpes simplex [TORCH]), and prematurity. (5) IV. Diagnosis and discussion -Elaborate on the condition: Bilateral infantile cataracts are one of the major treatable causes of visual impairment in children. (2) Hubel and Weisel’s research on the critical period of visual development determined that if infantile cataracts are removed within the critical period and appropriate correction is worn, vision is greatly improved. -
Intraocular Lenses and Spectacle Correction
MEDICAL POLICY POLICY TITLE INTRAOCULAR LENSES, SPECTACLE CORRECTION AND IRIS PROSTHESIS POLICY NUMBER MP-6.058 Original Issue Date (Created): 6/2/2020 Most Recent Review Date (Revised): 6/9/2020 Effective Date: 2/1/2021 POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT VARIATIONS DISCLAIMER CODING INFORMATION REFERENCES POLICY HISTORY I. POLICY Intraocular Lens Implant (IOL) Initial IOL Implant A standard monofocal intraocular lens (IOL) implant is medically necessary when the eye’s natural lens is absent including the following: Following cataract extraction Trauma to the eye which has damaged the lens Congenital cataract Congenital aphakia Lens subluxation/displacement A standard monofocal intraocular lens (IOL) implant is medically necessary for anisometropia of 3 diopters or greater, and uncorrectable vision with the use of glasses or contact lenses. Premium intraocular lens implants including but not limited to the following are not medically necessary for any indication, including aphakia, because each is intended to reduce the need for reading glasses. Presbyopia correcting IOL (e.g., Array® Model SA40, ReZoom™, AcrySof® ReStor®, TECNIS® Multifocal IOL, Tecnis Symfony and Tecnis SymfonyToric, TRULIGN, Toric IO, Crystalens Aspheric Optic™) Astigmatism correcting IOL (e.g., AcrySof IQ Toric IOL (Alcon) and Tecnis Toric Aspheric IOL) Phakic IOL (e.g., ARTISAN®, STAAR Visian ICL™) Replacement IOLs MEDICAL POLICY POLICY TITLE INTRAOCULAR LENSES, SPECTACLE CORRECTION AND IRIS PROSTHESIS POLICY NUMBER -
Insertion of Aqueous Shunt in Pedicatric Glaucoma
1/29/2018 Challenges of Insertion of Aqueous shunt in paediatric glaucoma Ahmed Elkarmouty MD, FRCS Moorfields Eye Hospital London, UK Classification • Primary Childhood Glaucoma • A- Primary Congenital Glaucoma (PCG) 1: 10,000–18,000 • B- Juvenile Open Angle Glaucoma (JOAG) (5-35 ys,)1 : 50,000. • Secondary Childhood Glaucoma • A- Glaucoma associated with non-acquired ocular anomalies • B- Glaucoma associated with non- acquired systemic disease or syndrome • C- Glaucoma associated with acquired condition • D- Glaucoma following Cataract surgery 1 1/29/2018 Glaucoma associated with non- acquired ocular anomalies • Conditions with predominantly ocular anomalies present at birth which may or may not be associated with systemic signs • Axenfeld Reiger anomaly • Peters anomaly • Ectropion Uvae • Congenital iris hypolplasia • Aniridia • Oculodermal melanocytosis • Posterior polymorphous dystrophy • Microphthalmos • Microcornea • Ectopia Lentis ( et pupillae) • Persistent foetus vasculopathy Glaucoma associated with non- acquired systemic disease or syndrome predominantly associated with known syndrome, systemic anomalies present at birth which may be associated with ocular signs • Down Syndrome • Connective tissue disorder: Marfan syndrome, Weill- Marchesiani syndrome, Stickler syndrome • Metabolic disorder : Homocystenuria, lowe syndrome, Mucoploysacchroidoses • Phacomatoses: Neurofibromatoses, Sturge Weber, Klipple-Trenaunay- weber syndrome, Rubenstein Taybi • Congenital Rubella 2 1/29/2018 Glaucoma associated with acquired condition Conditions -
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. -
Pediatric Orbital Tumors and Lacrimal Drainage System
Pediatric Orbital Tumors and Lacrimal Drainage System Peter MacIntosh, MD University of Illinois • No financial disclosures Dermoid Cyst • Congenital • Keratinized epidermis • Dermal appendage • Trapped during embryogenesis • 6% of lesions • 40-50% of orbital pediatric orbital lesion • Usually discovered in the first year of life • Painless/firm/subQ mass • Rarely presents as an acute inflammatory lesion (Rupture?) • Frontozygomatic (70%) • Maxillofrontal (20%) suture Imaging - CT • Erosion/remodeling of bone • Adjacent bony changes: “smooth fossa” (85%) • Dumbell dermoid: extraorbital and intraorbital components through bony defect Imaging - MRI • Encapsulated • Enhancement of wall but not lumen Treatment Options • Observation • Risk of anesthesia • Surgical Removal • Changes to bone • Rupture of cyst can lead to acute inflammation • Irrigation • Abx • Steroids Dermoid INFANTILE/Capillary Hemangioma • Common BENIGN orbital lesion of children • F>M • Prematurity • Appears in 1st or 2nd week of life • Soft, bluish mass deep to the eyelid • Superonasal orbit • Rapidly expands over 6-12 months • Increases with valsalva (crying) • Clinical findings • Proptosis Astigmatism • Strabismus Amblyopia INFANTILE/Capillary Hemangioma • May enlarge for 1-2 years then regress • 70-80% resolve before age 7 • HIGH flow on doppler • Kasabach-Merritt Syndrome • Multiple large visceral capillary hemangiomas • Sequestration of platelets into tumor • Consumptive thrombocytopenia • Supportive therapy and treat underlying tumor • Complications • DIC • death •Homogenous -
Solved/Unsolved
Supplementary Materials: Supplementary table 1. Demographic details for the 54 individual patients (solved/unsolved) and their clinical features including cataract type, details of ocular co-morbidities, systemic features and whether cataract was the presenting feature (non-isolated cataract patients only). Abbreviations: yes (Y), no (N), not applicable (N/A). Age at Famil Ag M/ Age at Cataract Cataract Cataract Systemic Consanguinit Patient ID Gene Confirmed genetic diagnosis Ethnicity diagnosi Ocular co-morbidities FH y ID e F surgery type RE type LE presenting sign features y s (days) Aniridia, nystagmus, 23 years Posterior Posterior 1-1 1 PAX6 Aniridia White British 25 F - glaucoma, foveal N N N Y 4 months subcapsular subcapsular hypoplasia Cleft palate, epilepsy, high Aphakia Aphakia Macular atrophy, myopia, 7 years 9 7 years 8 arched palate, 2-1 2 COL11A1 Stickler syndrome, type II Not Stated 34 F (post- (post- lens subluxation, vitreous N N N months months flattened surgical) surgical) anomaly maxilla, short stature (5'2ft) Anterior segment dysgenesis, pupillary abnormalities including 12 years Posterior Posterior ectopic pupils, ectropion 3-1 3 CPAMD8 Anterior segment dysgenesis 8 Other, Any other 27 F - N N Y N 5 months subcapsular subcapsular UVAE and irodensis, nystagmus, dysplastic optic discs, large corneal diameters Gyrate atrophy of choroid and 23 years 29 years 1 Posterior Posterior Retinal dystrophy, Bipolar 4-1 4 OAT White British 42 F N N N retina 7 months month subcapsular subcapsular exotropia disorder 1 year 6 1 year -
Feasibility and Outcome of Descemet Membrane Endothelial Keratoplasty in Complex Anterior Segment and Vitreous Disease
CLINICAL SCIENCE Feasibility and Outcome of Descemet Membrane Endothelial Keratoplasty in Complex Anterior Segment and Vitreous Disease Julia M. Weller, MD, Theofilos Tourtas, MD, and Friedrich E. Kruse, MD escemet membrane endothelial keratoplasty (DMEK), Purpose: Descemet membrane endothelial keratoplasty (DMEK) is Da technique for posterior lamellar keratoplasty, involves becoming the method of choice for treating Fuchs endothelial a graft consisting only of the thin Descemet membrane with dystrophy and pseudophakic bullous keratopathy. We investigated adherent corneal endothelial cells. Introduced in 2006 by whether DMEK can serve as a routine procedure in endothelial Melles et al,1 DMEK is becoming more popular as several decompensation even in complex preoperative situations. studies show its superiority to Descemet stripping automated Methods: Of a total of 1184 DMEK surgeries, 24 consecutive eyes endothelial keratoplasty (DSAEK), regarding visual function 2,3 with endothelial decompensation and complex preoperative situa- and the time of visual rehabilitation after DMEK. However, tions were retrospectively analyzed and divided into 5 groups: group because DMEK grafts are thinner than DSAEK grafts, it is fi 1: irido-corneo-endothelial syndrome (n = 3), group 2: aphakia, more dif cult to handle them and typically takes surgeons subluxated posterior chamber intraocular lens or anterior chamber longer to learn. intraocular lens (n = 6), group 3: DMEK after trabeculectomy (n = In difficult situations, most surgeons prefer DSAEK or 4), group 4: DMEK with simultaneous intravitreal injection (n = 6), penetrating keratoplasty to DMEK because of its possible and group 5: DMEK after vitrectomy (n = 5). Main outcome intraoperative complications. For example, if corneal edema 4 parameters were best-corrected visual acuity, central corneal thick- is advanced, Ham et al recommend performing DSAEK first ness, endothelial cell density, rebubbling rate, and graft failure rate. -
Stage Surgery on Inverted Papilloma Which Invaded Lacrimal Sac, Periorbita, Ethmoid and Frontal Sinus
臨床耳鼻：第 27 卷 第 1 號 2016 ••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••••• J Clinical Otolaryngol 2016;27:143-147 증 례 Stage Surgery on Inverted Papilloma which Invaded Lacrimal Sac, Periorbita, Ethmoid and Frontal Sinus Jae-hwan Jung, MD, Minsic Kim, MD, Sue Jean Mun, MD and Hwan-Jung Roh, MD, PhD Department of Otorhinolaryngology-Head & Neck Surgery, Pusan National University Yangsan Hospital, Yangsan, Korea - ABSTRACT - Inverted papilloma of the nasal cavity and the paranasal sinuses is a benign epithelial tumor with a high rate of recurrence, local aggressiveness, and malignant transformation. For these reasons, inverted papilloma has been treated like malignant tumors with extensive surgical resection. With the help of endoscopic sinus surgery tech- nique, it is now available to treat inverted papilloma with stage surgery without severe complications which usu- ally resulted from extensive one stage resection. We report a case of stage surgery on inverted papilloma which invaded lacrimal sac, periorbita, ethmoid and frontal sinus. (J Clinical Otolaryngol 2016;27:143-147) KEY WORDS：Inverted papillomaㆍLacrimal sacㆍPeriorbitaㆍSurgery. Authors present a successful endoscopic stage sur- Introduction gery on IP which invaded lacrimal sac, periorbita, ethmoid and frontal sinus with the literature review. Inverted papilloma (IP) of the nasal cavity and the paranasal sinuses is a benign epithelial tumor with a Case Report high rate of recurrence, local aggressiveness, and ma- lignant transformation.1,2) For these reasons, IP has A 41-year-old female presented in outpatient clinic been treated like malignant tumors with extensive sur- with a complaint of tender swelling mass on the in- gical resection. ner side of her right eye for 5 years which suddenly IP of lacrimal sac and periorbita is rarely reported aggravated 2 months ago.