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先天性双侧眼外肌全麻痹是一种罕见眼病,国内除3例散发病例报告外,尚未见家族遗传性病例报道。我们遇见一家系两代四人患本病,有的还合并小睑裂,高度近视、视网膜色素变性,报告如下。先证者男性21岁自幼双眼睁不大,于1990年3月24日来我科就诊。出生后,双上睑难以上举,眼球不能转动。视物时需皱额、仰头和转头。20年来病情无明显变化。患者系第三胎足月顺产。父母非近亲结婚。家中母亲、大姐和大弟有同样疾病(图)。
Congenital bilateral extraocular muscle paralysis is a rare eye disease, in addition to three cases of domestic cases of sporadic cases, but no family hereditary cases have been reported. We met a family of two generations of four suffering from the disease, and some also merged palpebral fissure, high myopia, retinitis pigmentosa, the report is as follows. The proband was male 21 years old eyes wide open, on March 24, 1990 to our department. After birth, double the upper eyelid is difficult to move, the eye can not rotate. Depending on the amount of wrinkles required, head and head turned. No significant change in 20 years. The third trimester of patients with full-term birth. Parents marry non-relatives. Home mother, sister and brother have the same disease (Figure).