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目的研究杜氏/贝氏进行性肌营养不良(DMD/BMD)携带者视网膜眼电图(ERG)的改变,探讨ERG对DMD/BMD携带者的诊断意义。方法对22个基因突变类型明确的DMD/BMD家系,用定量PCR法结合系谱分析将家系中女性成员分成肯定携带者和非携带者,对患者和家系女性成员进行详细的眼科检查和ERG检测,并用ERG国际测量标准记录结果。结果22名患者中17名出现异常ERG改变;11名肯定携带者中5名出现ERG异常,14名非携带者无ERG改变,两组无重叠。结论ERG是一项对DMD/BMD诊断非常敏感和特异的检查,而ERG对携带者的诊断也具有一定的临床意义。
Objective To study the changes of retinal electroretinogram (ERG) in patients with Duchenne / Behdi’s muscular dystrophy (DMD / BMD) and to explore the diagnostic value of ERG in DMD / BMD carriers. Methods Twenty-two DMD / BMD pedigrees with mutations were genotyped. The female members of the pedigree were divided into affirmative carriers and non-carriers by quantitative PCR and pedigree analysis. The patients and their pedigrees were examined by eye examination and ERG. The results were recorded using the ERG International Measurement Standards. Results Abnormal ERG was found in 17 out of 22 patients. Five of the 11 positive carriers had ERG abnormalities, and 14 non-carriers had no ERG changes. There was no overlap between the two groups. Conclusion ERG is a very sensitive and specific test for the diagnosis of DMD / BMD. However, ERG has some clinical significance in the diagnosis of carriers.