CEP290 and Leber congenital amaurosis: Mutations in human CEP290 are commonly associated with Leber's congenital amaurosis, an isolated degenerative blindness (den Hollander et al., 2006), but can also lead to outcomes as severe as Meckel–Grüber syndrome (failed neural tube closure, encephalocele and perinatal lethality) (Baala et al., 2007; Frank et al., 2008).