Leber Hereditary Optic Neuropathy-Associated Novel Mutation in <i>MT-RNR2</i> Gene: A Case Report.

ABSTRACT:

Introduction

Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy mainly caused by mutations at 1,178, 14,484, and 3,460 in mitochondrial DNA. Patients with LHON have a higher risk of developing multiple sclerosis (MS), a coexistence also known as Harding's syndrome. A growing body of evidence shows that other mitochondrial and non-mitochondrial mutations can lead to LHON and Harding's syndrome. Herein, we report a novel mutation in MT-RNR2 resulting in LHON.

Case presentation

A 35-year-old woman with bilateral painless optic neuropathy presented to neuro-ophthalmology clinic. Her blood work-up did not reveal any nutritional deficiencies, and she did not respond to steroid therapy. Genetic test revealed a m.1737A>G mutation in MT-RNR2 gene

SUBMITTER: KamaliZonouzi S 

PROVIDER: S-EPMC12818891 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature