3235 A gene for Leber's congenital amaurosis maps to chromosome 17p
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3235 A gene for Leber's congenital amaurosis maps to chromosome 17p
Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Zmax = 5.14 at theta = 0.15 for ...
متن کاملLebers Amaurosis in Three Siblings: A case report
Retinitis pigmentosa (RP) is the generic name for a group of hereditary disorders characterized by progressive loss of photoreceptors and RPE function. The classical triad of retinitis pigmentosa is arteriolar attenuation, retinal bone spicule pigmentation and waxy disc pallor. Lebers congenital amaurosis (LCA) is the hereditary form of retinitis pigmentosa. It presents with blindness either at...
متن کاملA novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
PURPOSE A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family. METHODS Genomic DNA was amplified across the polymorphic microsatellite...
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Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, N...
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ژورنال
عنوان ژورنال: Vision Research
سال: 1995
ISSN: 0042-6989
DOI: 10.1016/0042-6989(95)90293-7