多种神经系统遗传性疾病可伴视网膜色素变性,但多为罕见病。最近,我们诊治畸形性肌张力障碍合并视网膜色素变性1例。 病例摘要 男性,12岁,甘肃人。1987年5月来诊。自7岁起夜间视物不清,8岁后走路容易跌跤,10岁后左上肢经常呈后伸姿势,1986年底以后张口和发音困难,舌伸不出。神经系统查体:表情呆板,智力一般。眼底视乳头色调较淡,视网膜呈 A variety of neurological diseases can be associated with retinitis pigmentosa, but mostly rare. Recently, we diagnosed deformity dystonia with retinitis pigmentosa in 1 case. Case Summary Male, 12 years old, Gansu. May 1987 to the clinic. Since the age of 7, the nighttime blurred vision, 8-year-old walk easily fall, 10-year-old left upper limb often post-extension posture, after the end of 1986 mouth and pronunciation difficulties, the tongue can not stretch out. Nervous system examination: dull expression, intelligence in general. Fundus papillae lighter color, the retina was