The RPE65 gene, also known as retinoid isomerohydrolase, plays a crucial role in the visual cycle. It encodes an enzyme essential for the conversion of all-trans-retinyl esters to 11-cis-retinal, a component directly involved in the phototransduction process within the retinal pigment epithelium (RPE). Mutations in this gene are known to cause several forms of inherited retinal dystrophies.
