eye disorders
Hereditary Optic Neuropathies
Diagnosis of Hereditary Optic Neuropathies
Clinical evaluation Molecular genetic testing Diagnosis of dominant optic atrophy and Leber hereditary optic atrophy is mainly clinical. Molecular genetic testing is available to confirm many mutations responsible for both disorders. However, results can be falsely negative because mutations may exist for which molecular testing does not yet test. If Leber hereditary optic neuropathy is suspected, electrocardiography (ECG) should be done to diagnose occult cardiac conduction defects. 