先天性静止性夜盲家系的全视野暗视ERG分析

Analysis of Full-field Scotopic Electroretinogram (ERG) in a Large Family with Autosomal Dominant Congenital Stationary Night Blindness

对一个AD遗传型CSNB家系的11名患者22眼检测、分析了全视野暗视ERG。结果所有患眼的暗视ERG均有异常,并发现三种明显不同的类型。即以a波正常b波降低甚至出现负电反应为特征的Schubert-Bornschein型,以a波、b波振幅均下降为特征的Riggs型和以暗视白光和蓝光刺激下均无波为特征的无波型。认为不同类型的ERG反应并不表示不同的遗传本质,只代表CSNB基因的不同表现度。指出全视野暗视ERG检查对于CSNB的临床诊断、分型及与其它视网膜病的鉴别诊断均有重要价值。

Full-fleld scotopic ERGs were tested and analysed in 11 affected members of a large family with typical autosomal dominant CSNB. The results showed that abnormal scotopic ERGs existed in all patients, which include different types: 1) The Schubert-Bornschein type characterized by a normal a-wave and a markedly decreased or absent b-wave in scotopic white flash ERG. 2) The Riggs type characterized by reduced both a- and b-waves in seotopic white flash ERG. It involves both the bipolar cells and inner segments of the photoreceptors. 3) The extinguished type characterized by no recordable waves in both scotopic white flash and blue flash ERGs, which actually belongs to the most serious Riggs type. Both of the former two types could be subdivided into complete type in which rod ERG is absent and the incomplete type in which the rod ERG is present. All these different types of scotopic ERG can be observed in the same family and in both eyes of the single patient, therefore, it is proposed in this paper that different types of ERG responses do not represent different genetic entities of CSNB, but they are probably the results of different expressivity of the genes for CSNB.