Leber遗传性视神经萎缩

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。

Leber hereditary optic neuropathy

In this rticle,7 cases from 5 pedigrees with leber hereditary optic neuropathy(LHON) were reported.It is found that a centrocecal scotoma was existed in the visual field,and delayed visually evoked potentials.Serum Zn content was significantly lower than that of control group.ECG abnormalities was far more common than general population.In the acute stage,the optic disc was hyperemic and elevated,nerve fiber was swollen.Fluorescein angiography showed that arteries and telangiography were maximally dilated and flow was rapid.There was arteriovenous shunting in the telangiectatic vascular bed.In the atrophic stage,the disc appeared pale,vascular dilatation telangiectasia,and shunting were no longer seen.All arterioles were markedly narrowed.Circulation time from arteries to veins was greatly increased.