Leber hereditary optic neuropathy (LHON)
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A 20-year-old man experiences sudden painless vision loss in one eye, followed by the other eye weeks later. Fundoscopy shows optic disc hyperemia. Genetic testing reveals the m.11778G>A variant.
Mitochondrial (maternal inheritance)
- Three common variants: m.11778G>A (~70%), m.3460G>A, m.14484T>C
- Acute/subacute painless bilateral vision loss (sequential)
- Onset typically 15-35 years
- Male predominance (5:1 male:female)
- No pain with eye movement (unlike optic neuritis)
Note: m.14484T>C has best prognosis for recovery
- Ophthalmologic exam shows a central or cecocentral scotoma with optic disc hyperemia and peripapillary telangiectasias (no leakage on fluorescein angiography)
- mtDNA testing for the three primary variants (m.11778G>A, m.3460G>A, m.14484T>C) confirms the diagnosis
- Exclude compressive and inflammatory causes (MRI) when the presentation is atypical
- Idebenone may improve visual outcomes in selected patients, especially when started early
- Avoid tobacco and excess alcohol; both are recognized triggers of conversion in asymptomatic carriers
- Low-vision rehabilitation and maternal-lineage genetic counseling (variable penetrance, male predominance)
LHON Likes HOmbres (men)