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遗传性提上睑肌-内直肌联带运动

Inherited levator-medial rectus synkinesis.

作者信息

Pang M P, Zweifach P H, Goodwin J

出版信息

Arch Ophthalmol. 1986 Oct;104(10):1489-91. doi: 10.1001/archopht.1986.01050220083032.

Abstract

We examined two sisters with lid retraction on adduction, the classic sign of levator-oculomotor synkinesis. In both women, the left eye was involved. No history of trauma or ocular surgery or complaints of diplopia were elicited, and both had good visual acuity and full ocular motility. Each exhibited 2 mm of left upper lid elevation on adduction and 4 to 6 mm of lid elevation on adduction with depression. In one of the sisters, 1 mm of ptosis was present in straight ahead gaze in the involved eye, which increased to almost 2 mm on abduction, but full levator function was observed. Four other family members in three consecutive generations were similarly affected, suggesting an autosomal-dominant mode of inheritance. To our knowledge, this type of isolated levator-oculomotor synkinesis has not been reported previously on a congenital and inherited basis.

摘要

我们检查了两名患有内收时眼睑退缩的姐妹,这是提上睑肌 - 动眼神经联合运动的典型体征。两名女性均为左眼受累。未引出外伤或眼部手术史,也没有复视主诉,两人视力良好,眼球运动正常。两人内收时左上睑均上抬2mm,内收并下转时上睑上抬4至6mm。姐妹中的一人,患眼向前平视时有1mm上睑下垂,外展时增加至近2mm,但提上睑肌功能正常。连续三代中的其他四名家庭成员也有类似表现,提示为常染色体显性遗传模式。据我们所知,此前尚未有关于这种先天性和遗传性孤立性提上睑肌 - 动眼神经联合运动的报道。

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