Mutations in CEP78 lead to a deaf-blindness condition, distinct from Usher syndrome, and precisely to progressive cone-rod degeneration associated with hearing deficit that in most cases appear to be stationary. This genetic disorder is very rare and follows an autosomal recessive pattern of inheritance. Current information indicates that penetrance is complete and the heterozygous carriers display no symptoms. At the moment, a precise estimation of the disease prevalence is not possible because of the very low number of recognized cases.
CEP78