病例报告例1,先证者,男,4岁。生后发现视力差,一姐一妹均患同样眼病。父母近亲婚配。父母及患儿染色体检查均无异常。眼部检查:视力眼前手动。双眼球震颤,轻度凹陷,喜用手指压入眼眶。双瞳孔中度散大,对光反应迟钝。眼底:双视乳头色泽正常,境界清,视网膜血管普遍细 Case report 1, proband, male, 4 years old. Poor vision after birth, a sister and sister are suffering from the same eye disease. Parents and relatives marriage. Parents and children with chromosomal examination were normal. Eye examination: eyesight before hand. Double nystagmus, mild depression, like using your fingers pressed into the orbit. Double pupil moderately scattered, unresponsive to light. Fundus: Normal bilateral nipple color, the realm of clear retinal blood vessels generally fine