CEP290 and Leber congenital amaurosis: A prominent example is CEP290 (OMIM 610142), mutations in which can give rise to five distinct ciliopathies, including BBS, Joubert syndrome (JBTS), Meckel syndrome (MKS), nephronophthisis (NPHP) and the related Senior-Løken syndrome (SLSN), in addition to Leber congenital amaurosis (LCA), an early-onset vision loss (Table 1).