As the sole isomerohydrolase in the RPE, defective RPE65 results in impaired all-trans to 11-cis isomerization and severely blinding disorders including autosomal recessive Leber congenital amaurosis (LCA) (Bainbridge et al., 2008), and dominant or recessive retinitis pigmentosa (RP) (Morimura et al., 1998; Bowne et al., 2011). The gene discussed is RPE65; the disease is Leber congenital amaurosis.