目的：分析Leber先天性黑矇(Leber congenital amaurosis，LCA)患者血清脂质浓度的变化。

方法：采用回顾性序列病例研究方法，选取临床诊断为LCA的患者50例作为LCA组，选取52例正常人作为正常对照组，按盲法由专业技术人员测量两组受检者血清中低密度脂蛋白胆固醇(low density lipoprotein cholesterol，LDL-C)、高密度脂蛋白胆固醇(high density lipoprotein cholesterol，HDL-C)、甘油三酯(triglycerides，TG)、总胆固醇(total cholesterol，TC)含量，并对两组受检者的测量结果进行比较。

结果：LCA患者50例中，血脂水平异常者占46%，其中低HDL-C血症者占26%，高TG血症者占48%，高TC血症者占17%，混合型高脂血症者占9%。LCA患者血清HDL-C浓度为1.221±0.317mmol/L，较正常对照组明显下降，差异有统计学意义(P<0.05)； 血清TG浓度(1.377±1.171mmol/L)和TC浓度(4.506±0.694mmol/L)与正常对照组相比均明显升高，差异有统计学意义(均P<0.01)； LDL-C浓度与正常对照组相比，差异无统计学意义(P>0.05)。

结论：LCA患者血清HDL-C、TG和TC浓度异常变化可能与LCA的发病相关。

METHODS: Based on the retrospective study and the simple size in the statistics, 50 cases of LCA patients and 52 cases of normal people were included. The serum levels of low density lipoprotein cholesterol(LDL-C), high density lipoprotein cholesterol(HDL-C), triglycerides(TG), and total cholesterol(TC)were measured by professionals in hospital according to the single blind study. Data were analyzed statistically between the LCA group and normal group.

RESULTS: Among the 50 patients with LCA, abnormal serum lipid content accounted for 46%, of which 26% were low in HDL-C levels, hypertriglyceridemia accounted for 48%, hypercholesteremia accounted for 17%, respectively, 9% of patients had mixed hyperlipidaemia. The serum level of HDL-C was 1.221±0.317mmol/L in the LCA group, which was significantly lower than the normal group(P<0.05). The serum levels of TG and TC were 1.377±1.171mmol/L and 4.506±0.694mmol/L in the LCA group, which were significantly higher than the normal group(all P<0.01). There was no significant difference in the serum level of LDL-C between LCA and normal group(P>0.05).

CONCLUSION: In patients with LCA, abnormal concentration changes of HDL-C,TG and TC may be associated with the occurrence of LCA.