CEP290 and Joubert syndrome: CEP290 encodes a protein that localizes to the transition zone of the connecting cilium, including the cilia of photoreceptors11; Leber congenital amaurosis-CEP290 is one of an increasing number of retinal dystrophies that can be classified as a ciliopathy.9, 12 In addition to isolated LCA/EOSRD, CEP290 mutations also have been identified in Bardet–Biedl syndrome, Senior–Loken syndrome, Joubert syndrome, and Meckel–Gruber syndrome.7