Disease-causing variants in CEP290 have been associated with LCA, Joubert, Senior-Loken and Meckel syndromes.54 The intronic variant c.2991+1655A>G, p.(Cys998X) is the most frequent in LCA, with 60% to 90% of affected individuals carrying at least one c.2991+1655A>G allele.55 Patients with this variant rarely have extraocular manifestations. The gene discussed is CEP290; the disease is Leber congenital amaurosis.