Leber's hereditary optic neuropathy.

ABSTRACT

A case of Leber's hereditary optic neuropathy (LHON) in a healthy young man who presented with a slow progressive visual loss in one eye and later developed a visual loss in the other eye. There was no pre-existing symptom and no history of visual loss in other family members. Mitochondrial DNA mutation at 11,778 was found in the patient and his uneffected mother and brother. Currently the availability of reliable molecular genetic testing has revolutionized the diagnosis of LHON. LHON is a maternal inherited disorder that causes bilateral visual loss, predominantly in young men. This disorder has been associated with point mutations in the mitochondrial genome which constitute the different clinical phenotypes and prognosis. Genetic counseling in families at risk is recommended.