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例1,张某,男,17岁,汉族,农民。因自幼双眼上睑下坠、睑裂小、内眦赘皮、内眦距离增宽及视力障碍等,于1982年7月12日来诊。家族中无类似疾患,见家系图1.全身检查:除鼻梁发育差及深复颌外无其他阳性体征。眼部检查:视力:右眼0.06,左眼0.08。双眼眉毛高举。双上睑下垂:平视时上睑遮盖角膜上3/4。提上睑肌功能缺如,睑裂狭小:右睑裂长度20mm,高度5mm;左睑裂长度19mm,高度5mm,倒向性内眦赘皮。内眦距离增宽:内眦间距47mm,外眦间距86mm。双眼球向内偏斜:右眼约30度,左眼约45度,眼球运动无明显限制。双眼球水平性震颤。眼底需用一25.00D球看清楚,呈豹纹状,有弧形斑。
Example 1, Zhang, male, 17 years old, Han nationality, peasant. Due to his childhood upper eyelid ptosis, palpebral fissure, epicanthus, broadenned widening and visual impairment, etc., in July 12, 1982 visit. No similar family disease, see the family Figure 1. Systemic examination: In addition to poor development of the nose and deep complex jaw no other positive signs. Eye examination: visual acuity: right eye 0.06, left eye 0.08. Eyebrows raised high. Double ptosis: upper eyelid when covering the cornea on level 3/4. Levator palpebral dysfunction, palpebral fissure narrow: right palpebral fissure length 20mm, height 5mm; left palpebral fissure length 19mm, height 5mm, backward epicanthus. Internal 眦 widens: internal 眦 spacing 47mm, external 眦 spacing 86mm. Eyes inward bias: about 30 degrees right eye, left eye about 45 degrees, no significant eye movement restrictions. Binocular tremor. Need to see a 25.00D ball fundus, leopard-like, curved spot.