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- W2022746544 abstract "Leber congenital amaurosis describes a group of congenital retinal degenerations that cause significant visual loss. Advances in molecular genetics have helped identify mutations in 15 different genes, which together account for 70% of Leber congenital amaurosis cases. These genes are inherited in a predominantly autosomal recessive manner and encode a variety of retinal functions. These genes are exciting new targets for treatment aimed at improving visual function, notably with animal models such as the Briard RPE knockout dog and, more recently, human gene therapy trials." @default.
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- W2022746544 date "2011-04-01" @default.
- W2022746544 modified "2023-09-24" @default.
- W2022746544 title "Insight into Leber congenital amaurosis: potential for gene therapy" @default.
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