迪谢内/贝克肌营养不良患者视网膜眼电图改变特征

Characteristics of electroretinogram in patients with Duchenne and Becker muscular dystrophy

目的 研究迪谢内 /贝克肌营养不良 (DMD/BMD)患者视网膜眼电图 (ERG)的改变特征 ,探讨ERG对DMD/BMD的诊断价值及dystrophin在视网膜电信号传导上的作用。方法 对 2 2例临床确诊的DMD/BMD患者进行详细的眼科检查和ERG检测 ,采用ERG国际测量标准记录结果。 结果 全部患者眼科检查无明显异常。 2 2例患者中 16例 (72 7% )出现异常ERG改变 ;其中 15例为暗适应蓝光b波波幅下降或 (和 )消失 (P <0 0 0 1)。 13例暗适应白光b波波幅下降或 (和 )潜伏期延长(P <0 0 0 1)。 12例b/a波波幅比≤ 1(P <0 0 0 1)。 16例振荡电位OPs1～ 4 波波幅下降。结论 ERG可作为DMD/BMD诊断和症状前判断的一项有价值的检查。dystrophin及其同源蛋白在视网膜电信号的传导上起着重要作用。

Objective To investigate visual electrophysiological changes in Duchenne and Becker muscular dystrophy using electroretinogram(ERG), and to determine whether ERG is valuable for the diagnosis of DMD/BMD and whether dystrophin is significant to retinal neurotransmission. Methods Twenty three consecutive patients with Duchenne and Becker muscular dystrophy and 15 normal controls were examined by two experienced ophthalogists to exclude all eye disorders, then the ERG was performed according to international ERG standard. Results Sixteen patients(72 7%) were found to have abnomal ERG changes. Fifteen had scotopic b-wave amplitudes absence or reduction with blue stimulus( P <0 001). Thirteen had scotopic b-wave amplitudes reduction or prolonged implicit time with bright-white flash stimulus( P <0 001). b/a amplitude ratio was less than 1 in 12 patients In addition, sixteen patients had the reduction of oscillatory potential (OPs 1～4 ) amplitude. Conclusion ERG is valuable to DMD/BMD Dystrophin may play an important role in the retinal neurotransmission