A Case of Leber’s Hereditary Optic Neuropathy with Retinal Pigment Epithelium Change

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes optic neuropathy through retinal ganglion cell (RGC) damage and can be difficult to recognize when other intraocular lesions are present. We report an atypical case of LHON in a 55-year-old man who presented with prominent maculopathy suggestive of retinal pigment epithelium (RPE) involvement and subacute bilateral visual loss. At presentation, despite mild optic disc cupping, neither disc swelling nor hyperemia was observed. Fundus autofluorescence and optical coherence tomography showed mild focal RPE abnormalities. Humphrey visual field testing revealed a temporal paracentral scotoma in the left eye and a central scotoma in the right eye, while electroretinography was near normal. During follow-up, the central scotoma enlarged, optic atrophy developed, and RGC thinning progressed. Genetic testing identified the m.11778 G>A mutation, confirming LHON. This case illustrates that RPE changes consistent with mitochondrial retinopathy can be prominent early in LHON, underscoring maculopathy as part of its phenotypic spectrum.