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目的:观察Leber病有或无Walace位点突变与并发严重神经系统并发症者及其视力恢复的相关研究。方法:对有或无Walace突变者各10例随访观察,对伴有严重神经系统并发症家系进行分析。结果:有Walace突变者,视力低于0.05者18只眼,无Walace突变者,视力低于0.05者16只眼,两者经统计学处理无明显区别;伴有严重神经系统并发症者均无Walace突变。结论:Leber病有或无Walace突变,对视力恢复预测无意义,伴有严重神经系统并发症者常无11778位点突变。
OBJECTIVE: To investigate the association between Leber’s disease with or without Walace mutation and severe neurological complications and its visual recovery. Methods: A total of 10 cases with or without Walace mutation were followed up, and the pedigrees with severe neurological complications were analyzed. Results: There were 18 eyes with Walace mutation, visual acuity less than 0.05, 16 eyes without Walace mutation and 16 eyes with visual acuity of less than 0.05. There was no significant difference between the two groups by statistical analysis; with severe nervous system complications There were no Walace mutations in the disease. CONCLUSIONS: Leber’s disease has or does not have a Walace mutation, which is insignificant for visual acuity recovery prediction. Patients with severe neurological complications often have a no-11778 mutation.