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pubmed:abstractText |
Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene.
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pubmed:affiliation |
EA no 2502 du ministère de la Recherche, de l'Enseignement Supérieur et la Technologie, CEntre de Recherches Thérapeutiques en Ophtalmologie, Université René Descartes-Paris V, Faculté de Médecine René Descartes-Site Necker, Paris, France. mayeur@necker.fr
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