Article
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
BMC medical genetics - 28 Apr 2006
Mayeur Hélène, Roche Olivier, Vêtu Christelle, Jaliffa Carolina, Marchant Dominique, Dollfus Hélène, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Levin Alex V, Héon Elise, Sutherland Joanne, Lacombe Didier, Said Edith, Mezer Eedy, Kaplan Josseline, Dufier Jean-Louis, Marsac Cécile, Menasche Maurice, Abitbol Marc
Abstract excerpt
BACKGROUND: 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. METHODS: The ophthalmologic phenotype of the patients...
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