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Leber Hereditary Optic Neuropathy — SCE Neurology MCQ

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ModerateNeuro-ophthalmologyLeber Hereditary Optic NeuropathySCE Neurology

A 45-year-old woman presents with progressive visual loss in both eyes over 3 months. Examination shows bilateral optic disc pallor and visual acuity of 6/36 in both eyes. She has a strong family history of visual loss in males on the maternal side. Genetic testing confirms the m.11778G>A mitochondrial DNA mutation. What is the diagnosis?

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Correct answer: D — Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder causing subacute bilateral sequential visual loss, typically in young adults. The m.11778G>A mutation is the most common (70% of cases). Maternal inheritance means the family history shows affected males related through maternal line. A: MS optic neuritis is typically unilateral and recovers. C: Dominant optic atrophy has a different genetic basis (OPA1 gene). D: AION is sudden onset in older patients. E: Toxic neuropathy requires exposure history.

Reference: ABN Mitochondrial Disease Guidelines; EFNS LHON Guidelines