RPE65 and Retinal dystrophy: Leber congenital amaurosis (LCA) is a group of inherited retinal dystrophies that cause severe sight impairment in childhood.1 Mutations in the gene encoding the 65 kDa retinal pigment epithelium–specific retinoid isomerase (RPE65) (locus name LCA2; OMIM #204100) are responsible in upto 10% of affected individuals.