Leber's hereditary optic neuropathy: a case report

Leber's hereditary optic neuropathy (LHON) is a bilateral optic neuropathy of mitochondrial inheritance that produces significant painless, central vision loss and dyschromatopsia. LHON usually occurs in young males between the ages of 15 and 30 years and manifests an episode of subacute or acute vision loss in one eye, with the opposite eye becoming involved weeks to months later. Approximately 80% to 90% of all LHON patients are male. While the disease usually presents itself around the third decade of life, its onset ranges anywhere from 5 to 80 years.

We report a case of an uncooperative 12-year-old Hispanic boy who was brought to our group practice following referral from an outside optometrist for amblyopia therapy. Following the workup by the binocular vision clinician, a neuro-ophthalmic consultation was obtained, eventually leading to the diagnosis and confirmation of LHON.

Leber's hereditary optic neuropathy may manifest signs and symptoms that mimic common ophthalmic entities. Teenage males often are reluctant to report its subtle clinical findings, making its discovery even more challenging. LHON should be kept in mind as a possibility for anyone who manifests unexplained visual loss.