EYS and retinitis pigmentosa 1: Patient USHsrf5 carries a novel frameshift mutation, c.8392delG:p.D2798fs and a known missense mutation in EYS. Therefore, it is likely that the RP phenotype in these two patients is due to their mutations in EYS. As many patients with mutations in EYS have been reported and none of them showed hearing loss, it is likely that these patients’ hearing problems are independent of the retinal phenotype.