Parents

Mutations in CEP78 lead to a very rare recessive syndrome of unknown prevalence resulting in cone-rod degeneration (progressive loss of retinal function, affecting mostly cones) and mild to severe hearing deficit. This disorder is distinct from Usher syndrome, where hearing loss is accompanied by retinitis pigmentosa, a form of retinal degeneration that is very different from cone-rod degeneration. Do not call this syndrome “Usher syndrome”.