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报告５个家系７例Ｌｅｂｅｒ遗传性视神经萎缩（ＬＨＯＮ）。临床检查显示：病人视野有中心暗点，Ｐ－ＶＥＰ峰潜时延长，心电图异常发生率高于普通人群，血清锌含量低于对照组。急性期视盘充血水肿、边界不清，视盘周围微血管及大中小动脉极度扩张，神经纤维层水肿，荧光血管造影（ＦＡ）显示血流快，微血管扩张区有动静脉短路。萎缩期视盘苍白、神经纤维层萎缩，ＦＡ显示动脉变细、微血管减少、动静脉短路消失，动脉至静脉循环时延迟，无荧光渗漏。
Seven cases of Leber hereditary optic atrophy (LHON) were reported in five pedigrees. Clinical examination showed that there was a dark spot in the patient’s vision, P-VEP peak latency was prolonged, the incidence of abnormal electrocardiogram was higher than that of the general population, serum zinc content was lower than that of the control group. Acute disc hyperemia and edema, the border is unclear, the optic disc around the microvascular and large artery arterial expansion, neurofibrillary edema, fluorescein angiography (FA) showed rapid blood flow, arteriovenous shortening of microvascular dilatation area. In the atrophic period, the optic disc is pale and the nerve fiber layer atrophies. The FA shows that the arteries become thinner, the capillaries decrease, the arteriovenous short circuit disappears, and the arterial to venous circulation delays without fluorescence leakage.