Leber遗传性视神经病和视神经炎的临床特征比较  

Leber hereditary optic neuropathy and optic neuritis： similarities and differences of clinical characteristics LAI Chun-tao, WANG

作　　者：赖春涛[1] 王虔[1] 李众[1] 王薇[1] 朱静[1] 路阳[1] 张晓君[1] 余华峰[1] 

机构地区：[1]首都医科大学附属北京同仁医院神经内科,100730

出　　处：《中华眼科杂志》2007年第9期793-797,共5页Chinese Journal of Ophthalmology

摘　　要：目的比较Leber遗传性视神经病（LHON）和视神经炎（ON）的临床特征。方法收集55例LHON和48例ON患者的临床资料及脑脊液、头颅磁共振等实验室检查结果进行对比分析。结果LHON男性发病者多，为46例；ON为21例。LHON发病年龄较早，中位数为16岁；ON发病年龄较迟，中位数为30岁。患者视力下降持续2周以上者，LHON为42例，ON为10例。LHON以单相病程为主者53例，ON为30例；LHON患者视力损害严重，多在指数至0．1之间，双眼同时受累且视力接近。极少数患者伴有转眼痛，LHON为3例，ON为26例。两组患者间的眼底改变不易区别。母系家族遗传史常见，LHON检出率为50．0％（25／50），ON为4．1％（2／48）。视野检查显示受累眼有中心暗点的比例较高，LHON为26／39，ON为12／35；部分LHON和ON患者视诱发电位、脑脊液、头颅磁共振检测呈现炎性脱髓鞘样改变。遗传学检查可证实绝大部分LHON患者。结论LHON有突出临床特征，但多与ON重叠，少部分有LHON典型临床表现的患者遗传学检查结果阴性。Objective To compare the clinical characteristics of Leber Methods The information of clinical mhereditary optic neuropathy （LHON） with optic neuritis （ON）. anifestation and laboratory tests in 55 patients with LHON and 48 patients with ON were reviewed and analyzed. Results Compared with ON, LHON was more commonly found in male patients （46/55 vs 21/48） and onset at younger age （median 16 years vs 30 years）. There were more LHON than ON patients with the decrease of visual acuity lasted more than two weeks （42/49 vs 10/48）, severe damage in visual acuity whereas little pain sensation in eye associated with eye movement （3/55 vs 26/48 ）, dominant single-phase course （53/55 vs 30/48 ）, central scotoma （26/39 vs 12/35）, and family history of maternal relatives（25/50 vs 2/48）. The visual evoked potential, cerebral spinal fluid and brain magnetic resonance scanning revealed the involvement of inflammatory demyelination in the patients with LHON. Most patients with LHON could be confirmed by the mtDNA mutation examination. Conclusions Leber hereditary optic neuropathy has distinct clinical characteristics but overlap with optic neuritis in many aspects, mtDNA mutation examination can further confirm LHON in most of patients although a negative result may be seen in a small portion of patients showing typical manifestation of LHON.

关 键 词：视神经萎缩 遗传性 Leber 视神经炎 视力 低 

分 类 号：R686[医药卫生—骨科学]