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先天性虹膜缺损是胚胎发育期视杯边缘的胚裂未能完全闭合而形成的虹膜组织部分缺损。本文报告一家系调查结果如下: 先证者Ⅲ_3女性,9岁,小学生,身高体重与同龄人无差异。畏光、视物不清。无眼部外伤史或手术史。当地医生诊断为“斜视”。检查:视力5米处可辨认手指数,在光亮处不能自然睁大双眼,双侧眼球水平震颤,瞳孔呈梨状,尖端指向角膜缘,其下缘直达虹膜根部,晶状体绕核性混浊,无脱位,
Congenital iris defect is embryonic development at the edge of the cup embryo can not be completely closed and the formation of partial iris tissue defects. This article reports the results of a family survey as follows: proband III_3 women, 9 years old, primary school children, height and weight no difference with their peers. Photophobia, depending on the material is not clear. No history of ocular trauma or surgical history. Local doctors diagnosed as “strabismus.” Check: visual acuity of 5 meters at the finger, the light can not be natural eyes widened, bilateral eye tremor levels, the pupil was pear-shaped, the tip pointed to the limbus, the lower edge of the iris directly to the lens around the opacity of the nucleus, no Dislocation,