Leber遗传性视神经病变的误诊分析  

The causal analysis of misdiagnosing Leber＇s hereditary optic neuropathy

作　　者：卢毓敏[1] 梁纳[1] 顾欣祖[2] 

机构地区：[1]广州市红十字会医院眼科,广州510220 [2]中山大学中山眼科中心神经眼科

出　　处：《中国实用眼科杂志》2007年第6期677-680,共4页Chinese Journal of Practical Ophthalmology

基　　金：国家自然科学基金部分资助项目（N0.30471847）

摘　　要：目的 分析Leber遗传性视神经病变（LHON）误诊为其它类型视神经病变的原因。方法 收集半年来在中山大学中山眼科中心神经眼科门诊及病房工作中发现的误诊为其它类型视神经病变，最后经基因检查确诊为LHON的患者共10例，对其临床资料进行回顾性分析。结果 10例误诊病例中误诊为急性球后视神经炎7例，误诊为视神经视网膜炎1例，误诊为多发性硬化1例，误诊为正常眼压性青光眼1例。患者眼底表现为急性或亚急性视神经炎和视神经萎缩或无明显异常。FFA检查均表现为视盘表面及周围毛细血管扩张，无一例荧光渗漏。行线粒体DNA基因突变检测，均为阳性。结论 对于病因不明的视神经病应谨慎排除LHON，基因检测可迅速确诊LHON。Objective To analyse the causes of misdiagnosing Leber＇s hereditary optic neuropathy （LHON） as other types optic neuropathy diseases. Methods Ten cases of LHON misdiagnosing as other types optic neuropathy diseases and made the correct diagnosis finally based on the gene examine were collected. The climical features were analysed by retrospective study. Results Seven cases of LHON misdiagnosing as acute retrobulbar neuritis, One case of LHON misdiagnosing as neuroretinitis, One case of LHON misdiagnosing as multiple sclerosis, One cases of LHON misdiagnosing as normal tension glancoma. Ten cases＇s retina symp- toms were like acute or subactue optic neuritis and optic atrophy or had no abnormity obvious and the ophthalmic fluorescent angiography showed that capillary were enlarged. The examination of mitochondrial DNA （mtDNA） mutations were positive reaction. Conclusion It should be considered as LHON for the optic neuropathy diseases with unsure pathogeny. LHON could be diagnosis by the examination of gence.

关 键 词：遗传性 LEBER病 诊断 误诊 

分 类 号：R774.6[医药卫生—眼科]