Mutations in CEP290 are associated with various diseases, such as the devastating blinding disease Leber’s congenital amaurosis, nephronophthisis, Senior Lǿken syndrome, Joubert syndrome, Bardet–Biedl syndrome, and lethal Meckel–Gruber syndrome (Drivas and Bennett, 2014). The gene discussed is CEP290; the disease is Leber congenital amaurosis.