中文摘要：

目的：分析Leber先天性黑矇（Leber congenital amaurosis,LCA）患者血清中镁、钙、钾、钠及氯离子浓度的变化情况。方法：采用回顾性序列病例研究方法,纳入临床诊断的LCA患者50例,正常对照组99例,按盲法由专业技术人员完成血清离子浓度检查,并分别行LCA组和正常对照组比较。结果：在LCA患者检测的血清离子浓度中,钙离子浓度和钾离子浓度分别为2.338±0.090mmol/L和4.164±0.356mmol/L,分别与正常组相比均显著升高（均P〈0.05）;镁离子浓度为0.835±0.059mmol/L,与正常组相比显著下降（P〈0.05）;其他两种离子血清浓度与正常组相比无统计学差异（均P〉0.05）。结论：LCA患者血清镁、钙和钾离子浓度异常变化应该引起眼科医师的关注,其可能与LCA的发病有关。

英文摘要：

AIM：To study the concentration changes of the serum magnesium,calcium,potassium,sodium and chloride ions of the patients of Leber congenital amaurosis（LCA）.METHODS：Based on the retrospective study and the simple size in the statistics,50 cases of LCA patients and99 cases of normal people were tested the serum ions by professionals in hospital according to the single blind study.Data were analyzed statistically between LCA and normal groups.RESULTS：In the clinical serum ions test of LCA group,the concentration of calcium and potassium were 2.338±0.090mmol/L and 4.164 ± 0.356mmol/L respectively,which were significantly higher than those of the normal group（all P0.05）,but the concentration of magnesium was 0.835±0.059mmol/L,which was significantly lower than the normal group（P 0.05）.There were no significantly differences in remainder two serum ions concentration of LCA groups,comparing with the normal group（all P0.05）.CONCLUSION：In the patients with LCA,abnormal concentration changes of magnesium,calcium and potassium will be needed to concern of the ophthalmologist,which is probably related with the occurrence of LCA.