Deficiency in RPE65 and LRAT causes a spectrum of retinal disease that is typically classified as LCA (LCA2; OMIM #204100) or RP (RP20; OMIM 613794#) [1], but it may include other terms such as early-onset severe rod-cone dystrophy [40]. The gene discussed is RPE65; the disease is Leber congenital amaurosis.