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Leber hereditary optic neuropathy
Neuro-Ophthalmology
Key Points
- •LHON is caused by mitochondrial DNA point mutations (maternal inheritance) - the three primary mutations m.11778G>A (70%), m.14484T>C (15%), m.3460G>A (15%) account for >95% of cases
- •Classic presentation: young male (15–35 years) with acute/subacute painless bilateral sequential visual loss, cecocentral scotomas, and peripapillary telangiectatic microangiopathy that does NOT leak on FFA
- •Incomplete penetrance: only 50% of males and 10–15% of females with the mutation develop visual loss - smoking is the strongest modifiable risk factor and must be avoided by all carriers
- •Idebenone 900 mg/day (RHODOS trial) is the medical treatment - most effective if started within 1 year of onset; gene therapy (Lumevoq) is under investigation for the m.11778G>A mutation (EMA application withdrawn 2023; expanded access available)
- •m.14484T>C has the best spontaneous recovery rate (37–58%), while m.11778G>A has the worst (4–14%) - mutation identification is essential for prognosis
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- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations