A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy

Case Rep Ophthalmol. 2023 Mar 16;14(1):99-103. doi: 10.1159/000529423. eCollection 2023 Jan-Dec.


Mutations to the ND5 gene are uncommonly associated with Leber’s hereditary optic neuropathy (LHON). Herein, we describe a 57-year-old man with the m. 13528A>G, p. (Thr398Ala) mutation at the ND5 gene who presented with progressive bilateral vision loss over the course of 3 months. He had a significant history of smoking and alcohol consumption. Visual field testing demonstrated bilateral central scotomas. At 2-year follow-up, his visual acuity improved relative to baseline and temporal optic disc pallor was observed in both eyes. There are scarce reports of this mutation in the literature, and this case report further expands the clinical presentation of the m. 13528A>G mutation at the ND5 gene in patients with LHON phenotype.

PMID:36938504 | PMC:PMC10020936 | DOI:10.1159/000529423