In addition to LCA, CEP290 is associated with Joubert syndrome (JS; MIM# 213300), Senior-Loken syndrome (SLS; MIM# 266900), Meckel-Grüber syndrome (MKS; MIM# 249000) and Bardet-Biedl syndrome (BBS; MIM# 209900); a range of clinically and genetically heterogeneous ciliopathies (Sayer et al., 2006; Valente et al., 2006b; Baala et al., 2007; Brancati et al., 2007; Helou et al., 2007; Leitch et al., 2008). This evidence concerns the gene CEP290 and Leber congenital amaurosis.