Elmaseh Shenoda Abd, Gauthier Danielle A, Golmohammadi Maryam, Pargalava Nutsa, Carelli Valerio, Sadun Alfredo A
Department of Ophthalmology, David Geffen School of Medicine, Los Angeles, CA, United States.
Doheny Eye Institute, Los Angeles, CA, United States.
Front Med (Lausanne). 2025 Aug 19;12:1609941. doi: 10.3389/fmed.2025.1609941. eCollection 2025.
Leber's hereditary optic neuropathy (LHON) is a rare inherited mitochondrial disease caused by variants in mitochondrial DNA (mtDNA) transmitted exclusively through the maternal line. The disease predominantly affects young males and is characterized by progressive bilateral vision loss. Idebenone, a well-studied drug, modestly enhances the mitochondrial function and visual acuity in many patients with LHON. In this study, we report the case of a 48-year-old woman diagnosed with LHON (m.11778G>A/) and type 2 diabetes mellitus who experienced visual field improvement following metformin treatment after 26 months of progressive vision loss unresponsive to idebenone, nicotinamide adenine dinucleotide (NAD+), and hormone replacement therapy (HRT). Our findings offer an intriguing perspective on LHON management but require more investigations, particularly on the molecular effects of metformin on the mitochondrial function in LHON patients.
Leber遗传性视神经病变（LHON）是一种罕见的遗传性线粒体疾病，由线粒体DNA（mtDNA）变异引起，仅通过母系遗传。该疾病主要影响年轻男性，其特征是进行性双侧视力丧失。艾地苯醌是一种经过充分研究的药物，可适度增强许多LHON患者的线粒体功能和视力。在本研究中，我们报告了一例48岁女性，诊断为LHON（m.11778G>A/）和2型糖尿病，在经历了26个月对艾地苯醌、烟酰胺腺嘌呤二核苷酸（NAD+）和激素替代疗法（HRT）无反应的进行性视力丧失后，二甲双胍治疗后视野得到改善。我们的研究结果为LHON的治疗提供了一个有趣的视角，但需要更多的研究，特别是关于二甲双胍对LHON患者线粒体功能的分子影响。
