The association was firstly introduced in a study of a consanguineous family of Iranian Jewish origin characterized by early onset hearing loss and mild RP7 and, very recently, Kubota et al. 39 presented a Japanese family carrying compound heterozygous nonsense mutations in CEP250, with a clinical phenotype of cone-rod dystrophy and sensorineural hearing loss. The gene discussed is CEP250; the disease is cone-rod dystrophy.