Leber hereditary optic neuropathy (LHON) classically presents with:

• A Gradual bilateral, symmetric visual loss starting in the peripheral visual field with dyschromatopsia
• B Painful visual loss with improvement after systemic corticosteroids in young women
• C Bitemporal hemianopia caused by compressive optic chiasmal disease
• D Acute, painless, central visual loss typically in young males, with sequential involvement of the fellow eye; caused by mitochondrial DNA point mutations ✓

Explanation

LHON is a mitochondrial genetic disorder (most commonly due to point mutations at mtDNA positions 11778, 3460, or 14484) that primarily affects young males (90% male predominance due to incomplete penetrance influenced by mitochondrial and nuclear factors). It presents with acute or subacute, painless, central visual loss beginning in one eye and affecting the fellow eye within weeks to months. A central or cecocentral scotoma is characteristic. Acute phase shows peripapillary telangiectatic microangiopathy. The 14484 mutation carries best visual recovery prognosis. Idebenone is an approved treatment. This is distinct from optic neuritis which is painful and more common in young women.

Reference: Khurana Comprehensive Ophthalmology, 7th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.