Mutations in CEP290 exhibit pleiotropy with phenotypes ranging from LCA (affecting vision and other sensory systems) to nephronophthisis, and Joubert and Meckel syndromes involving multiple organ systems (Sayer et al., 2006; Valente et al., 2006; McEwen et al., 2007; Coppieters et al., 2010; Drivas et al., 2015). This evidence concerns the gene CEP290 and Leber congenital amaurosis.