A Case of Leber’s Hereditary Optic Neuropathy With Reversible Symmetric Lesions in the Substantia Nigra

Cureus. 2025 Jan 3;17(1):e76883. doi: 10.7759/cureus.76883. eCollection 2025 Jan.

ABSTRACT

A 34-year-old man with a history of alcoholism experienced progressive vision loss in both eyes over two months. His best corrected visual acuity was 0.1 OD and 0.2 OS, with visual field tests showing central scotoma bilaterally. Fundus examination revealed reddish optic discs with peripapillary telangiectasia in both eyes. Brain MRI showed bilateral high-intensity lesions in the substantia nigra on T2-weighted/Fluid-Attenuated Inversion Recovery (FLAIR) and diffusion-weighted images. Mitochondrial genetic analysis confirmed the m.11778G>A variant. After the patient stopped consuming alcohol and improved his nutrition, the substantia nigra lesions resolved 18 months after initial symptoms. The improvement of lesions following alcohol abstinence implies a possible link between nutritional status and substantia nigra abnormalities, suggesting concurrent alcohol encephalopathy. While substantia nigra lesions can complicate the diagnosis of Leber’s hereditary optic neuropathy (LHON), careful assessment of alcohol consumption history and improvement following abstinence is essential for differential diagnosis.

PMID:39902000 | PMC:PMC11788512 | DOI:10.7759/cureus.76883