Biallelic mutations in the RPE65 gene (online mendelian inheritance in man (OMIM) * 180069) cause the most severe forms of IRD, namely, Leber congenital amaurosis (LCA) and early onset retinal dystrophy, with an estimated worldwide prevalence of 1.20–2.37 per 100,000 [3]. Here, RPE65 is linked to Leber congenital amaurosis.