Liutkeviciene Rasa, Sidaraite Agne, Kuliaviene Lina, Glebauskiene Brigita, Jurkute Neringa, Aluzaite-Baranauskiene Lina, Gelzinis Arvydas, Zemaitiene Reda
Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu str. 2, Kaunas LT-50161, Lithuania.
Medicina (Kaunas). 2021 Feb 26;57(3):202. doi: 10.3390/medicina57030202.
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely , and , account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15-35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare mutation in gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.
Leber遗传性视神经病变（LHON）是最常见的遗传性线粒体视神经病变之一，由线粒体DNA（mtDNA）突变引起。三种最常见的突变，即 、 和 ，占LHON病例的大多数。这些突变导致线粒体呼吸链复合体I受损。通常，LHON发病年龄在15至35岁，男性居多。LHON与严重、亚急性、无痛性双侧视力丧失有关，是年轻个体法定失明的最常见原因之一。自发视力恢复很少见，有报道称携带 突变的患者会出现这种情况。到目前为止，LHON的治疗方法有限。艾地苯醌已获欧洲药品管理局（EMA）批准用于治疗LHON。然而，对疾病机制的深入了解以及正在进行的治疗试验前景乐观，为患者带来了希望。在本文中，我们报告了一名被诊断为LHON的患者，其 基因存在罕见的 突变，该患者经历了自发视力恢复。此外，我们总结了临床表现、诊断特征和治疗方法。
