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. This evidence concerns the gene CRB1 and severe early-childhood-onset retinal dystrophy.