A Japanese Case of Leber’s Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant

Abstract

ABSTRACTLeber’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.KEYWORDS: Leber’s hereditary optic neuropathyoptic neuropathym.13051G>A pathogenic variantmitochondrial diseasegenetic testing AcknowledgmentsThe authors would like to thank the patient for her collaboration.Disclosure statementNo potential conflict of interest was reported by the authors.Data availability statementAll data generated or analysed during this study are included in this article. Further enquiries can be directed to the corresponding author.Statement of ethicsThe patient provided oral and written consent for publishing the data. The report does not include personal information that could identify the patient directly or indirectly. All medical interventions have been carried out according to the latest therapeutic protocols. All aspects of the present study are following the Declaration of Helsinki.Additional informationFundingThe authors reported there is no funding associated with the work featured in this article.