CRB1 mutations were reported to lead to severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa and cone-rod dystrophies, depending on the amount of residual CRB1 activity and the genetic background13, 14, 15. The gene discussed is CRB1; the disease is Leber congenital amaurosis.