Abstract
Genetic eye diseases (GEDs) are clinically and genetically heterogeneous. Results from molecular genetic testing are redefining the etiology and clinical spectrum of these heritable diseases, helping to explain the observed overlap in clinical phenotypes. Patients and parents benefit from DNA analysis when results confirm a diagnosis or make a diagnosis more specific. Accurate counseling can then be provided regarding the prognosis, presymptomatic diagnosis, life and family-planning issues and whether to anticipate other ocular or systemic medical problems. Patients hope that mutation identification will enable their participation in future clinical trials for treatment. Requests for molecular testing are increasing while those in the visually impaired world and the healthcare professionals who manage them wait to learn long-term results of the first human clinical trials for a GED to be treated with gene therapy, RPE65-type Leber congenital amaurosis. The advantages and disadvantages of molecular testing for ocular diseases are discussed in general, followed by specific details for over 40 GEDs. Some cases are presented to demonstrate testing issues.
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