Hereditary and Compressive Optic Neuropathies: LHON, DOA and Chiasmal Lesions
Last updated: November 2026
When the optic disc is pale and the vision is falling without pain, think beyond glaucoma: a hereditary optic neuropathy or a tumour pressing on the anterior visual pathway. The pattern of vision and field loss usually tells you which.
Leber hereditary optic neuropathy (LHON)
- Mitochondrial (maternal inheritance); young men most often affected, typically in their teens to thirties.
- Painless, subacute, severe central vision loss in one eye, then the other within weeks to months.
- Acute phase: hyperaemic disc, peripapillary telangiectatic vessels, swollen-looking RNFL that does not leak on FFA; later optic atrophy.
- Common mutations: m.11778 (ND4, the commonest worldwide), m.3460 and m.14484 (best chance of spontaneous recovery).
- Treatment: idebenone (approved in Europe); gene therapy is under investigation. Advise against smoking and heavy alcohol.
Dominant optic atrophy (DOA)
- Autosomal dominant, usually OPA1 gene; insidious bilateral loss in childhood.
- Temporal disc pallor, central or centrocaecal scotomas, blue-yellow colour defect.
Compressive lesions of the chiasm
| Lesion | Clues |
|---|---|
| Pituitary macroadenoma | Bitemporal hemianopia (often superior first), headache, endocrine symptoms; pituitary apoplexy is an emergency |
| Craniopharyngioma | Children and older adults; bitemporal defect often inferior first; calcification |
| Meningioma (tuberculum sellae, sphenoid wing, optic nerve sheath) | Middle-aged women; slow monocular loss, optociliary shunt vessels |
| Aneurysm | May present with a field defect and III nerve palsy |
When to image
- Any unexplained optic atrophy, especially unilateral or progressive.
- Field defects that respect the vertical midline (bitemporal or homonymous).
- MRI brain and orbits with contrast is the investigation of choice.
Where residents slip
- Calling every pale disc glaucoma without checking the field pattern.
- Missing a bitemporal defect because only central fields were tested.
- Forgetting to ask about family history and tobacco and alcohol in young men.
Test yourself: flip cards
Related: Visual Pathway and Field Defects Made Easy: Five Rules, Optic Neuritis: Typical vs Atypical, How to Read a Visual Field: Hard-Core Perimetry Tips.
Key sources
- Yu-Wai-Man P, et al. Leber hereditary optic neuropathy. Lancet Neurol (review)
- Carelli V, et al. International consensus statement on the clinical and therapeutic management of LHON. J Neuroophthalmol. 2017;37:371-381
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