Mutations in LCA disease genes may lead to diverse phenotypes, e.g., cone rod dystrophy (CRX, AIPL1, GUCY2D, RPE65, and RPGRIP1), retinal dystrophy (RDH12), and Bardet-Biedl, Joubert or Meckel syndrome (CEP290). The gene discussed is RPE65; the disease is Leber congenital amaurosis.