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Ｌｅｂｅｒ遗传性视神经病变具有母系遗传和倾向于男性发病的特点。现已证实均为ｍｔＤＮＡ的点突变。目前国外报告有１３个位点的突变。其中，原发突变有１１７７８、３４６０、１４４８４位点突变，继发突变位点１０个，它们是：４９１７、４２１６、１３７０８、７４４４、１５２５７、１５８１２、５２４４、４１６０、４１３６、１３７３０等。另有学者报告有１４个位点突变，除以上１３个以外加上１１０８４。１４４８４位点视力预后最好，其次是３４６０位点，１１７７８位点突变患者的视力预后最差。临床上发现用一种脑代谢改善药（ｉｄｅｂｅｎｏｎｅ）治疗后视力接近正常。本综述通过对近年来Ｌｅｂｅｒ病分子遗传学研究方面的成果、进展做一阐述，为基因诊断及今后试验性碱基替代疗法提供参考
Leber’s hereditary optic neuropathy is characterized by maternally inherited and predisposed to male onset. It has been confirmed that mtDNA point mutations. At present, there are 13 mutations in foreign reports. Among them, the primary mutations have 11778,3460,14484 point mutations, 10 secondary mutation sites, which are: 4917,4216,13708,7444,15257,15812,5244,4160,4136,13730 and so on. Another scholar reported 14 mutations, in addition to the above 13 plus 11084.14484 point visual acuity prognosis is best, followed by 3460 points, 11778 point mutation patients with the worst visual acuity. It is clinically found that visual acuity is approaching normal with an idebenone treatment. This review summarizes the achievements and advances in the field of molecular genetics of Leber disease in recent years and provides references for gene diagnosis and future experimental base replacement therapy