Horiuchi Kazuhiro, Nakamura Shuntaro, Yamada Kazuki
Neurology, Hakodate Municipal Hospital, Hakodate, JPN.
Cureus. 2025 Mar 11;17(3):e80439. doi: 10.7759/cureus.80439. eCollection 2025 Mar.
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder characterized by subacute, painless, and bilateral vision loss, typically affecting young men. LHON is caused by mitochondrial DNA mutations, most commonly m.11778G>A, m.14484T>C, and m.3460G>A. LHON has incomplete penetrance, with a higher prevalence in men, and its diagnosis is often delayed because of clinical overlap with other optic nerve disorders, such as optic neuritis. Herein, we report the case of a 37-year-old man presenting with progressive vision loss in both eyes over two months. Early magnetic resonance imaging (MRI) findings were suggestive of optic neuritis or peripapillary optic neuritis. Based on the MRI findings, the differential diagnoses for the patient's condition included multiple sclerosis, neuromyelitis optica spectrum disorders, anti-myelin oligodendrocyte glycoprotein (MOG) antibody-related diseases, sarcoidosis, Behçet's disease, systemic lupus erythematosus, Sjögren's syndrome, and idiopathic optic neuritis and peripapillary optic neuritis. The patient was treated with intravenous methylprednisolone and plasmapheresis. Despite immunotherapy, the patient's symptoms worsened. Comprehensive evaluation revealed normal cerebrospinal fluid and negative autoimmune markers. Mitochondrial DNA testing confirmed the m.11778G>A mutation, which led to the diagnosis of LHON. The patient was treated with ubidecarenone because of the unavailability of idebenone; however, no significant visual improvement occurred. His vision stabilized at 0.3 in the right eye, whereas the left eye became completely blind. This case highlights the diagnostic challenges of LHON, particularly when MRI findings mimic optic neuritis. The preservation of the pupillary light reflex and nonresponse to immunotherapy are key diagnostic clues. Early genetic testing is crucial in cases with atypical progression to confirm LHON and guide management. This case underscores the need for heightened awareness of the incidence of LHON in patients with subacute vision loss unresponsive to conventional treatments.
Leber遗传性视神经病变（LHON）是一种罕见的线粒体疾病，其特征为亚急性、无痛性双侧视力丧失，多见于年轻男性。LHON由线粒体DNA突变引起，最常见的是m.11778G>A、m.14484T>C和m.3460G>A。LHON具有不完全外显率，男性患病率较高，由于其临床表现与其他视神经疾病（如视神经炎）重叠，其诊断往往延迟。在此，我们报告一例37岁男性患者，其双眼视力在两个月内逐渐下降。早期磁共振成像（MRI）结果提示视神经炎或视乳头周围视神经炎。根据MRI结果，该患者病情的鉴别诊断包括多发性硬化症、视神经脊髓炎谱系疾病、抗髓鞘少突胶质细胞糖蛋白（MOG）抗体相关疾病、结节病、白塞病、系统性红斑狼疮、干燥综合征以及特发性视神经炎和视乳头周围视神经炎。该患者接受了静脉注射甲泼尼龙和血浆置换治疗。尽管进行了免疫治疗，患者症状仍恶化。综合评估显示脑脊液正常且自身免疫标志物阴性。线粒体DNA检测证实存在m.11778G>A突变，从而确诊为LHON。由于艾地苯醌无法获取，该患者接受了辅酶Q10治疗；然而，视力并未显著改善。其右眼视力稳定在0.3，而左眼完全失明。该病例突出了LHON的诊断挑战，尤其是当MRI表现类似视神经炎时。瞳孔对光反射保留以及对免疫治疗无反应是关键的诊断线索。对于病情进展不典型的病例，早期基因检测对于确诊LHON和指导治疗至关重要。该病例强调，对于对传统治疗无反应的亚急性视力丧失患者，需要提高对LHON发病率的认识。
