ocular albinism - Medical Dictionary

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ocular albinism		Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. [ Books \| Images \| Discussion groups ]

Additional comments : Articles Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. Authors: Vogel P, Read RW, Vance RB, Platt KA, Troughton K, Rice DS Journal: Vet Pathol Foveal depression and albinism. Authors: Harvey PS, King RA, Summers CS Journal: Ophthalmology Involvement of OA1, an Intracellular GPCR, and G{alpha}i3, its Binding Protein, in Melanosomal Biogenesis and Optic Pathway Formation. Authors: Young A, Powelson EB, Whitney IE, Raven MA, Nusinowitz S, Jiang M, Birnbaumer L, Reese BE, Farber DB Journal: Invest Ophthalmol Vis Sci Positive angle kappa: a confounding variable in the diagnostic testing of patients with albinism. Authors: Brodsky MC Journal: Br J Ophthalmol A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Authors: Hutton SM, Spritz RA Journal: Invest Ophthalmol Vis Sci Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter. Authors: Fukamachi S, Kinoshita M, Tsujimura T, Shimada A, Oda S, Shima A, Meyer A, Kawamura S, Mitani H Journal: Genetics Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Authors: Mochel F, Missirian C, Reynaud R, Moncla A Journal: Eur J Med Genet The prevalence of attention-deficit/hyperactivity disorder among persons with albinism. Authors: Kutzbach B, Summers CG, Holleschau AM, King RA, MacDonald JT Journal: J Child Neurol The fovea regulates symmetrical development of the visual cortex. Authors: Neveu MM, von dem Hagen E, Morland AB, Jeffery G Journal: J Comp Neurol Oculocutaneous albinism. Authors: Grønskov K, Ek J, Brondum-Nielsen K Journal: Orphanet J Rare Dis Identification of two novel mutations in families with X-linked ocular albinism. Authors: Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ Journal: Mol Vis The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. Authors: Sone M, Orlow SJ Journal: Exp Eye Res Outcomes of prosthetic iris implantation in patients with albinism. Authors: Karatza EC, Burk SE, Snyder ME, Osher RH Journal: J Cataract Refract Surg New mutations identified in the ocular albinism type 1 gene. Authors: Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M Journal: Gene SLC45A2 variations in Indian oculocutaneous albinism patients. Authors: Sengupta M, Chaki M, Arti N, Ray K Journal: Mol Vis Changing pattern of childhood blindness. Authors: Khan RI, O'Keefe M, Kenny D, Nolan L Journal: Ir Med J Acuity development in infantile nystagmus. Authors: Weiss AH, Kelly JP Journal: Invest Ophthalmol Vis Sci Analysis of ocular hypopigmentation in Rab38cht/cht mice. Authors: Brooks BP, Larson DM, Chan CC, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik JF, Maminishkis A, John SW, Bush R, Pavan WJ Journal: Invest Ophthalmol Vis Sci [Phenotype of the visual system in oculocutaneous and ocular albinism] Authors: Käsmann-Kellner B, Seitz B Journal: Ophthalmologe [Introduction to the topic: albinism. Much more than just blue eyes] Authors: Käsmann-Kellner B Journal: Ophthalmologe The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. Authors: Rymer J, Choh V, Bharadwaj S, Padmanabhan V, Modilevsky L, Jovanovich E, Yeh B, Zhang Z, Guan H, Payne W, Wildsoet CF Journal: Exp Eye Res [Genetics of oculocutaneous albinism] Authors: Zühlke C, Stell A, Käsmann-Kellner B Journal: Ophthalmologe Deficits of visual motion perception and optokinetic nystagmus after posterior suprasylvian lesions in the ferret (Mustela putorius furo). Authors: Hupfeld D, Distler C, Hoffmann KP Journal: Exp Brain Res Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Authors: Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G Journal: Eur J Med Genet Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. Authors: Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK Journal: J Hum Genet Sweep visual evoked potential testing as a predictor of recognition acuity in albinism. Authors: Bradfield YS, France TD, Verhoeve J, Gangnon RE Journal: Arch Ophthalmol Perceptual relevance of abnormal visual field representations: static visual field perimetry in human albinism. Authors: Hoffmann MB, Seufert PS, Schmidtborn LC Journal: Br J Ophthalmol Albinism: a model of adaptation of the brain in congenital visual disorders. Authors: Gottlob I Journal: Br J Ophthalmol Chromatophore distribution and inferior performance of albino Japanese flounder Paralichthys olivaceus with special reference to different chromatophore expression between albinism and pseudo-albinism. Authors: Shikano T, Shimada Y, Nakamura A Journal: J Exp Zool Part A Ecol Genet Physiol Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Authors: Ray K, Chaki M, Sengupta M Journal: Prog Retin Eye Res Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Authors: Seo JH, Yu YS, Kim JH, Choung HK, Heo JW, Kim SJ Journal: Ophthalmology Dopaminergic signaling in the developing retina. Authors: Reis RA, Ventura AL, Kubrusly RC, de Mello MC, de Mello FG Journal: Brain Res Rev A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. Authors: Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M Journal: Am J Med Genet A Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. Authors: Jethani J, Parija S, Shetty S, Vijayalakshmi P Journal: Indian J Ophthalmol [Ocular albinism in pediatric patients with nystagmus] Authors: Trzebicka A, Sarti G, Kocy?a-Karczmarewicz B, Gra?ek M, Juszko J, Szap?yko W Journal: Klin Oczna Shroom2 (APXL) regulates melanosome biogenesis and localization in the retinal pigment epithelium. Authors: Fairbank PD, Lee C, Ellis A, Hildebrand JD, Gross JM, Wallingford JB Journal: Development Chicken and egg. Authors: Sloper J Journal: Br J Ophthalmol Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. Authors: Hoffmann MB, Lorenz B, Preising M, Seufert PS Journal: Invest Ophthalmol Vis Sci Topographical retinal function in oculocutaneous albinism. Authors: Kelly JP, Weiss AH Journal: Am J Ophthalmol Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Authors: Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG, Carden SM Journal: Ophthalmic Genet Saccadic instabilities in albinism without nystagmus. Authors: Timms C, Thompson D, Russell-Eggitt I, Clement R Journal: Exp Brain Res Chiasmal misrouting and foveal hypoplasia without albinism. Authors: van Genderen MM, Riemslag FC, Schuil J, Hoeben FP, Stilma JS, Meire FM Journal: Br J Ophthalmol Correlation of grating acuity with letter recognition acuity in children with albinism. Authors: Louwagie CR, Jensen AA, Christoff A, Holleschau AM, King RA, Summers CG Journal: J AAPOS Motion perception deficits in albino ferrets (Mustela putorius furo). Authors: Hupfeld D, Distler C, Hoffmann KP Journal: Vision Res Eight previously unidentified mutations found in the OA1 ocular albinism gene. Authors: Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M Journal: BMC Med Genet An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1. Authors: Piccirillo R, Palmisano I, Innamorati G, Bagnato P, Altimare D, Schiaffino MV Journal: J Cell Sci Indocyanine green angiographic findings in congenital grouped albinotic spots. Authors: Karacorlu SA, Karacorlu M, Ozdemir H, Sanisoglu H Journal: Retina Photic history modifies susceptibility to retinal damage in albino trout. Authors: Allison WT, Hallows TE, Johnson T, Hawryshyn CW, Allen DM Journal: Vis Neurosci A newly established mutant strain with mild-type ocular coloboma (retinochoroidal coloboma without microphthalmia) in albino mice. Authors: Matsuura T, Kodama Y, Ozaki K, Shirai S, Hirasawa T, Aoyama H, Narama I Journal: Birth Defects Res A Clin Mol Teratol Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Authors: Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V Journal: Hum Mutat Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. Authors: Li W, He M, Zhou H, Bourne JW, Liang P Journal: Hum Mutat The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. Authors: Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV Journal: Pigment Cell Res Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? Authors: Ung T, Allen LE, Moore AT, Trump D, Zito I, Hardcastle AJ, Yates J, Bradshaw K Journal: Doc Ophthalmol Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. Authors: Hou JW Journal: Chang Gung Med J The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Authors: Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V Journal: Invest Ophthalmol Vis Sci Optic chiasm formation in humans is independent of foveal development. Authors: Neveu MM, Holder GE, Sloper JJ, Jeffery G Journal: Eur J Neurosci Retrospective analysis of refractive errors in children with vision impairment. Authors: Du JW, Schmid KL, Bevan JD, Frater KM, Ollett R, Hein B Journal: Optom Vis Sci Misrouting of the optic nerves in albinism: estimation of the extent with visual evoked potentials. Authors: Hoffmann MB, Lorenz B, Morland AB, Schmidtborn LC Journal: Invest Ophthalmol Vis Sci Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae. Authors: Staleva L, Orlow SJ Journal: Exp Eye Res A motion-sensitive area in ferret extrastriate visual cortex: an analysis in pigmented and albino animals. Authors: Philipp R, Distler C, Hoffmann KP Journal: Cereb Cortex Eye movement abnormalities in hermansky-pudlak syndrome. Authors: Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA Journal: J AAPOS Comparison of clinical findings in pediatric patients with albinism and different amplitudes of nystagmus. Authors: Wolf AB, Rubin SE, Kodsi SR Journal: J AAPOS The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Authors: Schiaffino MV, Tacchetti C Journal: Pigment Cell Res Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Authors: Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, Auricchio A Journal: Mol Ther [An in vivo OCT study of human natural accommodation in a 19-year-old albino] Authors: Baikoff G, Lutun E, Wei J, Ferraz C Journal: J Fr Ophtalmol Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. Authors: Lauronen L, Jalkanen R, Huttunen J, Carlsson E, Tuupanen S, Lindh S, Forsius H, Sankila EM, Alitalo T Journal: Br J Ophthalmol A critical review of the function of neuromelanin and an attempt to provide a unified theory. Authors: Nicolaus BJ Journal: Med Hypotheses Pattern of eye diseases in children of 5-15 years at Bazzertaline Area (South Karachi) Pakistan. Authors: Shaikh SP, Aziz TM Journal: J Coll Physicians Surg Pak Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations. Authors: Miyamura Y, Verma IC, Saxena R, Murase A, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y Journal: J Dermatol Sci Cone-rod dystrophy and acquired dissociated vertical nystagmus. Authors: Sampangi R, Chaudhuri Z, Menon V, Saxena R Journal: J Pediatr Ophthalmol Strabismus Regional abnormalities in retinal development are associated with local ocular hypopigmentation. Authors: Giménez E, Lavado A, Jeffery G, Montoliu L Journal: J Comp Neurol References are required for measurement of OCT images. Authors: Schachar RA Journal: J Cataract Refract Surg Production of symmetrical flatfish by controlling the timing of thyroid hormone treatment in spotted halibut Verasper variegatus. Authors: Tagawa M, Aritaki M Journal: Gen Comp Endocrinol The relationship between ambient lighting conditions, absolute dark-adapted thresholds, and rhodopsin in black and hypopigmented mice. Authors: Daly GH, DiLeonardo JM, Balkema NR, Balkema GW Journal: Vis Neurosci Positive angle kappa in albinism. Authors: Summers CG, King RA, Merrill KS, Lavoie JD Journal: Am J Ophthalmol Indocyanine green angiography pattern of congenital grouped albinotic retinal pigment epithelial spots. Authors: Battaglia Parodi M, Iacono P Journal: Semin Ophthalmol From candelas to photoisomerizations in the mouse eye by rhodopsin bleaching in situ and the light-rearing dependence of the major components of the mouse ERG. Authors: Lyubarsky AL, Daniele LL, Pugh EN Journal: Vision Res Positive angle kappa: a sign of albinism in patients with congenital nystagmus. Authors: Brown SM Journal: Am J Ophthalmol Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Authors: Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W Journal: Ophthalmology Ocular penetration of grepafloxacin after intravitreal administration in albino and pigmented rabbits. Authors: Solans C, Bregante MA, Garcia MA, Perez S Journal: Chemotherapy Monocular visual activation patterns in albinism as revealed by functional magnetic resonance imaging. Authors: Schmitz B, Käsmann-Kellner B, Schäfer T, Krick CM, Grön G, Backens M, Reith W Journal: Hum Brain Mapp The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Authors: Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V Journal: Mol Cell Biol [Fundus quiz 2003] Authors: Bischoff P, Rüesch R, Valmaggia C Journal: Klin Monatsbl Augenheilkd Subnormal visual acuity (SVAS) and albinism in Mexican 12-13-year-old children. Authors: Sjöström A, Kraemer M, Ohlsson J, Garay-Cerro G, Abrahamsson M, Villarreal G Journal: Doc Ophthalmol Absorption, distribution and excretion of 14C-levofloxacin after single oral administration in albino and pigmented rats: binding characteristics of levofloxacin-related radioactivity to melanin in vivo. Authors: Tanaka M, Ono C, Yamada M Journal: J Pharm Pharmacol Ocular albinism with sensorineural deafness. Authors: Tak WJ, Kim MN, Hong CK, Ro BI, Song KY, Seo SJ Journal: Int J Dermatol Positive angle kappa: a sign of albinism in patients with congenital nystagmus. Authors: Brodsky MC, Fray KJ Journal: Am J Ophthalmol Anterior chamber optical coherence tomography study of human natural accommodation in a 19-year-old albino. Authors: Baikoff G, Lutun E, Wei J, Ferraz C Journal: J Cataract Refract Surg New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. Authors: Ohde H, Shinoda K, Nishiyama T, Kado H, Haruta Y, Mashima Y, Oguchi Y Journal: Vision Res Visual electrophysiological screening in diagnosing infants with congenital nystagmus. Authors: Brecelj J, Stirn-Kranjc B Journal: Clin Neurophysiol [Prevalence of optic atrophy and associated ocular and systemic diseases in a department of paediatric ophthalmology] Authors: Denne C, Käsmann-Kellner B, Ruprecht KW Journal: Klin Monatsbl Augenheilkd Electroretinographic evidence for altered phototransduction gain and slowed recovery from photobleaches in albino mice with a MET450 variant in RPE65. Authors: Nusinowitz S, Nguyen L, Radu R, Kashani Z, Farber D, Danciger M Journal: Exp Eye Res Ophthalmic genetics/inherited eye disease. Authors: Young TL Journal: Curr Opin Ophthalmol Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Authors: King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS Journal: Hum Genet Elevated free calcium levels in the subretinal space elevate the absolute dark-adapted threshold in hypopigmented mice. Authors: Lavallee CR, Chalifoux JR, Moosally AJ, Balkema GW Journal: J Neurophysiol [Hereditary foveal hypoplasia - clinical differentiation] Authors: Schroeder HW, Orth U, Meyer-König E, Gal A Journal: Klin Monatsbl Augenheilkd Congenital and inherited ophthalmologic abnormalities. Authors: Arora P, Tullu MS, Muranjan MN, Kerkar SP, Girisha KM, Bharucha BA Journal: Indian J Pediatr MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Authors: King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS Journal: Am J Hum Genet Mutational analysis of the OA1 gene in ocular albinism. Authors: Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M Journal: Ophthalmic Genet X-linked ocular albinism: fundus of a heterozygous female. Authors: Costa DL, Huang SJ, Donsoff IM, Yannuzzi LA Journal: Retina

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