For the other genes, the following mutations presented with a gene-specific allele-frequency of at least 20% in the LCA population: p.Lys801X (CRB1, 27%), p.Cys948Tyr (CRB1, 23%), p.Phe530LeufsX40 (RPE65, 25%), p.Arg768Trp (GUCY2D, 31%), p.Phe565Ser (GUCY2D, 23%) and p.Trp278X (AIPL1, 89%). The gene discussed is RPE65; the disease is Leber congenital amaurosis.