摘要Leber遗传性视神经病变（LHON）是一种罕见的遗传性视神经疾病，目前对其发病原因和发病机制的认识相对清楚。随着艾地苯醌等新型药物的产生以及基因治疗LHON的可能性，为患者复明带来了希望。然而，由于国内尚未普遍开展基因检测技术，临床将LHON误诊为视神经炎的情况依然时有发生。如何对LHON进行及时的鉴别和正确的诊断，对于我国眼科医生来说，尚具有一定的挑战。此外，在治疗方面，LHON发病前期（基因突变携带者）和发病后不同时期治疗方法的选择和治疗费用，对于患者和其家庭来说，也存在着巨大的挑战。

abstractsLeber's hereditary optic neuropathy (LHON) is a rare hereditary optic nerve disease. At present, the understanding of its etiology and pathogenesis is relatively clear. With the emergence of new drugs such as idebenone and the possibility of gene therapy for LHON, it has brought hope for patients to recover. However, because genetic testing technology has not been widely developed in China, clinical misdiagnosis of LHON as optic neuritis still occurs from time to time. How to make timely identification and correct diagnosis of LHON still poses certain challenges for Chinese ophthalmologists. In addition, in terms of treatment, the choice of treatment methods and treatment costs in the pre-onset (gene mutation carriers) and different periods after the onset of LHON are also huge challenges for patients and their families.