Retinoid isomerohydrolase RPE65 (RPE65)

Retinoid isomerohydrolase RPE65 is an enzyme found in the retinal pigment epithelium that is essential for the visual cycle, specifically required for regenerating 11-cis-retinal from all-trans-retinyl esters; this step is crucial for phototransduction and sustaining normal vision. Mutations in the RPE65 gene are responsible for several inherited retinal diseases, including Leber congenital amaurosis and retinitis pigmentosa, leading to severe visual impairment or blindness. The enzyme's central role in vitamin A metabolism and retinal health has made it the target for gene therapy—for example, voretigene neparvovec, a gene addition therapy approved for patients with confirmed biallelic pathogenic RPE65 mutations[1][2][3][4].

Other names

Retinal pigment epithelium-specific 65 kDa proteinretinol isomeraseretinoid isomeraseRPE65 protein

Restoration of functional RPE65 activity (via gene addition therapy, such as voretigene neparvovec), facilitating the conversion of all-trans-retinyl esters to 11-cis-retinol for visual pigment regeneration