显性遗传先天性静止性夜盲全视野明视ERG的分析

Analysis of Full-Field Photopic Electroretinograms in Patients with Autosomal Dominant Congenital Stationary Night Blindness

对同一家系11名显性遗传CSNB 患者进行全视野明视ERG 分析,发现8名患者出现异常,表现为:1.明视白光刺激的b 波峰时延长或振幅降低;2.白光刺激出现负电反应;3.对闪烁光刺激的反应振幅降低甚至无波。认为CSNB 的主要病损在视网膜杆体系统,但锥体系统也受到不同程度的损害。提出根据电生理和心理物理检查可将本病分为仅累及杆体系统的单纯型和杆体、锥体均受到损害的混合型。临床上这两种不同的亚型是CSNB 基因不同表现度的反映。

Full-field photopic electroretinograms were tested in patients with autosomal dominantcongenital stationary night blindness (CSNB) from the same family.Eight of these patientsshowed abnormal responses including 1) delayed or markedly decreased b-wave towhite flash stimulus;2) negative ERG to white flash stimulus;3) diminished or extingui-shed responses to the stimulation of 30HZ intense flicker.It was demonstrated that thisdisease mainly affected the rod system of retina,but the cone system was also slightly ormoderately involved.Autosomal dominant CSNB can be subdivided into two subgroups,thesimple type characterized by loss of rod function and mixed type characterized by affectingboth the rod and the cone systems.Because the two different types could be observedin the same family,it was proposed that different clinical subgroups of CSNB shouldbe the result of different expressivity of the gene for autosomal dominant CSNB.