Highly conserved among vertebrate species, RPE65 is a major protein of the retinal pigment epithelium (RPE). RPE65 is essential for the regeneration of rhodopsin in the visual cycle. Mutations in RPE65 are responsible for certain forms of autosomal recessive severe retinal dystrophy, including Leber Congenital Amaurosis (LCA). Loss of function results in a block in retinoid processing required for the synthesis of 11-cis retinal and the accumulation of retinyl esters in the RPE.
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