患者女16岁,自幼两眼畏光,灯下不能睁眼、不辨颜色,读小学时成绩尚可,人中学成绩较差、全身检查无明显异常,两眼视力均为0.1,鼻梁稍宽,轻度内眦赘皮,羞明,眼球轻度水平震颤,视神经乳头略呈竖椭园形,视网膜动脉略细,反光稍强、黄斑区稍暗;色觉不能辨图表中任何颜色:平面视野无中心暗点;第一暗点适应曲线缺如;视网膜电流图(ERG)检查:明视系统功能(锥体细胞系统功能)缺乏;细胞遗传学检查结果为46,××。父母亲为近亲婚配,生六胎,3人健存,2人夭亡,其中例有先天斜视,加上本例在6个子女中明确眼疾的有2例。先天性色盲症与近亲婚配有密切相关,国 The patient was 16 years old, both eyes photophobia, light can not open their eyes, do not distinguish the color, the results can still be read in primary school, poor middle school, body check no obvious abnormalities, both eyes were 0.1, Width, mild epicanthus, shame, slightly tremor level of the eye, the optic nerve head slightly vertical elliptical, retinal artery slightly thin, slightly stronger reflective, macular area slightly darker; color can not distinguish any color chart: flat field of vision No dark spots in the center; absence of the first dark spot adaptation curve; ERG examination: lack of apparent system function (pyramidal cell system function); cytogenetic test result of 46, ××. Parents for the marriage of relatives, six births, three healthy, 2 premature death, including cases of congenital strabismus, coupled with this case in 6 children with clear eye disease in 2 cases. Congenital color blindness and intimacy are closely related to the country