Leber遗传性视神经病变的临床特点

Clinical features of Leber hereditary optic neuropathy

目的探讨Leber遗传性视神经病变(LHON)的发病特点,避免误诊。设计回顾性病例系列。研究对象2009年3月至2015年6月就诊于解放军总医院神经眼科的79例LHON患者。方法回顾性分析79例(156眼)LHON患者(视神经损害和mt DNA基因检测阳性)的基本资料、发病特点、视力、瞳孔及相对性瞳孔传入障碍(RAPD)情况、视野、mt DNA突变位点。主要指标性别、年龄、视力、视野、瞳孔及相对性瞳孔传入障碍情况及mt DNA检测结果。结果平均发病年龄(20.94±11.91)岁(中位数17.0岁),男性患者67例(133眼,84.81%)。66例(83.54%)患者曾被误诊,其中74.68%初步诊断为视神经炎。有家族史16例(20.25%)。双眼同时发病43例(54.43%),双眼先后发病34例(43.04%)。mt DNA突变位点以11778G>A,14484T>C,3460G>A为主(共占87.34%)。瞳孔对光反射灵敏53例(67.09%)。视野67.90%表现为中心暗点或旁中心暗点。病程<3个月者视盘以水肿多见,而>6个月者则视盘萎缩明显增多。71.80%患者视力<0.1,病程越长,低视力占比越高。结论 Leber遗传性视神经病变多见于25岁以下中青年男性,以严重的双眼视力下降,瞳孔光反射灵敏,视野表现为巨大的中心或旁中心暗点为主要特点。

Objective To study the characteristics of Leber hereditary optic neuropathy（LHON） for early diagnosing and avoiding unnecessary treatment.Design Retrospective case series.Participants 79 cases（156 eyes） who were diagnosed as LHON（detection of optic nerve damage and mt DNA gene positive）.Methods Retrospective analysis the basic data,disease characteristics,visual acuity,pupil and relative afferent pupillary defect（RAPD）,visual field of 79 cases（156 eyes） with LHON,collecting its course,clinical characteristic clinical manifestation.Main Outcome Measures Gender,age,visual acuity,visual field,pupil and RAPD and the results of mt DNA test.Results The mean age of scheduled patients was 20.94±11.9 years（median 17 years）,with 67 males（133 eyes,84.81%）.66 cases were misdiagnosed as optic neuritis.16 cases（20.25%） had family histories.Both eyes suffered from vision loss at the same time in 43 cases（53.43%）,and 34 patients（43.04%） secondary attack of both eyes.Mt DNA mutations of 11778 G A,14484 T C,3460 GA accounted for 87.34% of the total.The pupil was sensitive to light in 53 cases（67.09%）.67.90% of cases showed central or paracentral scotoma.Within 3 months of onset,fundus examination showed optic disc edema.Optic disc pale as more obvious 6 months after onset.In 71.80% of patients,the vision was less than 0.1.The longer duration,the higher the proportion of low vision was found.Conclusion LHON mainly happened among middle-aged male,mostly under 25 years.The patients suffered from serious vision loss,but the pupil was sensitive of light.Visual field test usually showed large center or near the center scotoma.