​Diagnosis and management of these genetic eye conditions is usually challenging. History, eye examination and further investigations including imaging, visual field testing and electrophysiological tests help to reach diagnosis. Recent advances in molecular genetics have helped to identify a substantial number of genes associated with eye diseases. 

Genetic testing can help to reach accurate diagnoses and thus provide information about prognosis, guide interventions for the child, and assist in counseling regarding risk of disease occurrence in subsequent children.