PDF(Pubmed)
Abstract：
Leber\'s hereditary optic neuropathy (LHON) is one of the hereditary optic neuropathies and is principally caused by three frequent mitochondria deoxyribonucleic acid (DNA) pathogenic variants (m.11778 G>A, m.3460 G>A, and m.14484T>C). These pathogenic variants account for 90% of LHON cases, with rare pathogenic variants accounting for the remaining cases. We report the first Japanese case of LHON with the m.13051 G>A pathogenic variant, which is a rare primary pathogenic variant of LHON. A 24-year-old woman developed subacute visual loss in both eyes over several months. The best corrected visual acuity (BCVA) was 6/120 in her right eye (OD) and 6/7.5 in her left eye (OS). A relative afferent pupillary defect was not detected. Humphrey visual field testing revealed a central scotoma OD and a temporal paracentral scotoma OS. Fundus examination showed the presence of a pale optic disc OD and optic disc swelling with peripapillary microangiopathy OS. Orbital magnetic resonance imaging showed no abnormal findings. As the mitochondrial DNA gene testing demonstrated the m.13051 G>A pathogenic variant, the patient was diagnosed with LHON. Subsequently, her BCVA worsened to 6/600 in each eye, followed by a nearly plateau-like progression thereafter. This mutation has been primarily reported in Europe but has not yet been confirmed in the Asian region. This case also indicates the importance of examining the whole mitochondrial DNA gene for pathogenic variants in cases where one of the three major pathogenic variants has not been not detected.
摘要：
Leber的遗传性视神经病变（LHON）是遗传性视神经病变之一，主要由三种常见的线粒体脱氧核糖核酸（DNA）致病变异引起（m.11778G>A，m.3460G>A，和m.14484T>C）。这些致病变异占LHON病例的90%，罕见的致病变异占其余病例。我们报道了日本首例具有m.13051G>A致病变体的LHON，这是LHON的一种罕见的原发致病变种。一名24岁的女性在几个月内双眼出现亚急性视力丧失。右眼（OD）的最佳矫正视力（BCVA）为6/120，左眼（OS）为6/7.5。未检测到相对传入瞳孔缺损。汉弗莱视野测试显示中央暗点OD和颞侧中央暗点OS。眼底检查显示存在浅色视盘OD和视盘肿胀，伴有乳头状微血管病变OS。轨道磁共振成像未见异常发现。由于线粒体DNA基因检测显示m.13051G>A致病变异，患者被诊断为LHON。随后，她的每只眼睛的BCVA恶化到6/600，随后是近乎高原般的进展。这种突变主要在欧洲报道，但尚未在亚洲地区得到证实。这种情况还表明，在未检测到三种主要致病变体之一的情况下，检查整个线粒体DNA基因的致病变体的重要性。
