例1男,37岁。1977年发现夜间视物不清,视力逐渐下降,1979年诊断为双眼原发性视网膜色素变性,经药物治疗无效,症状日趋严重。1990年7月9日来我院。患者父母为姑表血族联姻,其弟(例2)亦患此病。溯患者上三代及其他兄妹无同样病史,患者既往体健,全身检查、常规血尿、肝功、均未见异常,血清锌、铜、镁微量元素亦属正常。眼部检查:视 Example 1 male, 37 years old. 1977 was found at night blurred vision, visual acuity decreased in 1979, diagnosed as primary retinal pigment degeneration, after drug treatment is invalid, the symptoms become more serious. July 9, 1990 to our hospital. Patient’s parents are kinship marriages, his brother (2 cases) also suffer from the disease. There was no history of tracing the third generation and other siblings. The patients had no previous abnormal health, general examination, routine hematuria and liver function. The serum zinc, copper and magnesium trace elements were also normal. Eye examination: visual