Mutations in CEP290 cause several ciliopathies ranging from nonsyndromic retinal degeneration, i.e., Leber Congenital Amaurosis (LCA), to syndromic disorders including, Senior–Loken syndrome (SLS), Joubert syndrome (JBTS), MKS, and Bardet–Biedl syndrome (BBS) [26]. Here, CEP290 is linked to Leber congenital amaurosis.