A Rare ND5 Mutation Causing Leber ’s Hereditary Optic Neuropathy

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. 13528Agt;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 fie ld 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 presentati on of the m. 13528Agt;G mutation at the ND5 gene in patients with LHON phenotype.Case Rep Ophthalmol 2023;14:99 –103
Source: Case Reports in Ophthalmology - Category: Opthalmology Source Type: research