Management
- Periodical advanced ophthalmic examinations
- Periodical standard audiology examinations
- Genetic screening and counseling upon appearance of symptoms or positive family history of cone-rod dystrophy with/without hearing problems
- Currently no treatment is available
Genetic counseling
Deaf-blindness due to CEP78 mutations follows an autosomal recessive pattern of inheritance. Heterozygous carriers are not affected, whereas carriers of either homozygous or compound heterozygous mutations are affected. A couple for which both parents are unaffected carriers of one pathogenic allele each in CEP78 have a 25% risk of having a child that carries two pathogenic alleles and thus develops the disease, a 25% risk of having a child that carries no mutations, and a 50% risk of having a healthy child who is a carrier of one mutation only (either of paternal or maternal origin).