摘要
目的 探讨Leber先天性黑矇的临床特征.方法 回顾性分析1985年至2009年就诊于中国中医科学院眼科医院、福建医科大学第一附属医院及福州东南眼科医院的Leber先天性黑矇患者36例的临床资料,总结其临床特征.结果 在发病的36例中,有家族史者6个家系,13例发病;散发性23例.近亲结婚史者3个家系.就诊年龄在1～21岁,平均2.5岁.视力最好的为0.08,大多数为光感.瞳孔散大对光反应消失有记录者8例.26例眼底呈青灰色状,其中伴有不同程度的散在色素8例.无眼底改变者5例.分别统计眼球震颤、眼球凹陷及指眼征在所有病例中出现的频率,发现36例中有眼球震颤的32例次,占88.9％ （32/36）;有眼球凹陷的30例次,占83.3％ （30/36）;有指眼征者30例次,占83.3％ （30/36）;其中三者皆有的28例,占77.8％ （28/36）.ERG有10例呈熄灭波.结论 婴幼儿视力明显减退至盲者,如发现有三眼（指眼征、眼球震颤、眼球凹陷）三联征,可考虑诊断Leber先天性黑矇.
Objective To investigate the clinical characteristics of Leber congenital amaurosis （LCA）.Methods A retrospective study was carried out in 36 LCA cases between 1985 and 2009 in China academy of traditional Chinese medicine ophthalmology hospital,First affiliated hospital of Fujian medical university and Fuzhou southeast ophthalmology hospital.The records of the patients were analyzed with the view to summarize the clinical features of LCA.Results Among the patients,13 cases had family history that came from 6 families,and the other 23 were sporadic cases.There were three families with history of consanguineous marriage.The age of seeing doctor was between 1～21 years old,and the every age was 2.5 year.The best visual acuity was 0.08; most of the patients only had light perception.Eight cases presented with mydriasis and no light reflex.Twenty-six cases had green-grey fundus with varied pigmentation,while the other 10 cases had normal fundus or couldn＇t cooperate in the examination.Thirty-two patients （88.9%,32/36） had nystagmus,30 patients （83.3%,30/36） had enophthalmus and oculo-digital sign respectively,28 patients （77.8%,28/36） presented with all of the three signs.Ten cases showed extinguished wave form in ERG examination.Conclusions Infants present with severe visual impairment or blindness,if companied by oculo-digital sign,nystagmus and enophthalmus Triad sign should be suspected with LCA diagnosis.
出处
《中国实用眼科杂志》
CSCD
北大核心
2014年第6期761-763,共3页
Chinese Journal of Practical Ophthalmology
