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目的 分析 L eber先天性黑蒙的临床特点及其候选基因变异情况。方法 连续收集分析 2 7例年龄 4m o～ 18a的 L eber先天性黑蒙先证者临床资料。应用 PCR-异源双链- SSCP法分析 GUCY2 D基因外显子 2和 8,寻找可能的变异。结果 2 7例患者均在 2 a以内出现视力差或对光、物体无反应 ,最好视力小于 0 .1。症状年龄 2 1例在 3m o内。 2 7例均有眼球震颤 (其中 15例为眼球扫视运动 )。 2 2例有眼底异常 ,5例眼底未见异常。 3例有家族史并呈常染色体隐性遗传。 ERG锥杆反应重度下降或记录不到波。未发现 GU CY2 D基因突变。结论 L eber先天性黑蒙临床表现多样 ,诊断有赖于 ERG。本组病例可能与GU CY2 D外显子 2、8突变无关
Objective To analyze the clinical features of L eber congenital amaurosis and its candidate gene variation. Methods The clinical data of 27 cases of L eber congenital amaurosis who were aged from 4 months to 18 years were collected and analyzed continuously. The exon 2 and 8 of the GUCY2 D gene were analyzed by PCR-heteroduplex-SSCP to find possible variations. RESULTS: Twenty-seven patients had poor visual acuity or no response to light and objects within 2 years. The best visual acuity was less than 0.1. Symptoms of age 21 cases within 3m o. All 27 had nystagmus (15 of them were saccade). 2 2 cases of fundus abnormalities, 5 cases of fundus no abnormalities. Three patients had a family history of autosomal recessive inheritance. ERG taper rod reaction decreased significantly or recorded wave. GU CY2 D gene mutation was not found. Conclusion L eber congenital amaurosis clinical manifestations vary, the diagnosis depends on the ERG. This group of patients may be GU CY2 D exon 2,8 mutation has nothing to do