Article
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Nature genetics - 1 Jan 2000
Sohocki M M, Bowne S J, Sullivan L S, Blackshaw S, Cepko C L, Payne A M, Bhattacharya S S, Khaliq S, Qasim Mehdi S, Birch D G, Harrison W R, Elder F F, Heckenlively J R, Daiger S P
Abstract excerpt
Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram (ERG). Mutations in GUCY2D (ref. 3), RPE65 (ref. 4)...
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