Leber hereditary optic neuropathy (LHON) is caused by mitochondrial mutations that lead to sequential, subacute vision loss with incomplete penetrance and variable expressivity.1 The most common mutations involve complex I subunits of the electron transport chain causing an energy production-demand mismatch that preferentially affects retina ganglion cells. The fundus can show only subtle vascular changes or appear normal, posing a diagnostic challenge in the acute phase of the disease.
Gaier ED, Gittinger JW, Cestari DM, Miller JB. Peripapillary Capillary Dilation in Leber Hereditary Optic Neuropathy Revealed by Optical Coherence Tomographic Angiography. JAMA Ophthalmol. 2016;134(11):1332–1334. doi:10.1001/jamaophthalmol.2016.3593
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