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Article

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

Progress in retinal and eye research - 1 Sept 2010

Cideciyan Artur V

Abstract excerpt

Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromophore which forms the visual pigment in rod and cone photoreceptors of the retina. Congenital loss of chromophore...

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Identifiers

PMID: 20399883
DOI: 10.1016/j.preteyeres.2010.04.002
PMCID: PMC2903652

Genes

RPE65

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