Nevertheless, patients with KIAA0586-related JBTS should be investigated for signs of retinal degeneration, and given that mutations in the JBTS gene CEP290 may cause non-syndromic Leber congenital amaurosis (den Hollander et al., 2006), KIAA0586 represents a candidate gene for isolated retinopathies. The gene discussed is KIAA0586; the disease is Joubert syndrome.