CEP290 and Leber congenital amaurosis: Genetic deficiency in CEP290 is responsible for 15% of Leber congenital amaurosis (LCA) cases and has been implicated in other ciliopathies including SLS, nephronophthisis, Joubert syndrome, Bardet-Biedl syndrome (BBS), and Meckel syndrome (MKSS) [46–48].