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先证者:男,3岁,自幼双眼视力不良,羞明,于1999年3月14日就诊。系第一胎足月顺产,父母非近亲结婚,母亲双眼正常,全身检查无异常。眼部检查:视力无法查(患者不懂),双眼睑裂对称,因畏光双眼球向上翻,无运动障碍,双眼结膜无充血,角膜透明,无虹膜,晶状体周边部悬韧带和睫状突可完全看见。双眼晶状体后囊下呈花冠状混浊,玻璃体无混浊,视神经盘发育较小、色稍淡。诊断:双眼先天性无虹膜伴白内障。 先证者之父:33岁,自幼双眼视力不良,羞明。于1999年3月14日就诊。全身检查无异常。眼部检查:右眼视力0.04,左眼视力0.02;矫正视力:右眼0.15,左眼0.1。双眼睑裂大小对称,因畏光眼球上翻,无运动障碍。双眼球结膜无充血,角膜透明.无虹膜,晶状体后囊下呈花冠状混浊;玻璃体、眼底不清,眼压正常。诊断:双眼先天性无虹膜伴白内障,屈光不正,弱视。
Proof: Male, 3 years old, his eyes poor eyesight, shame, on March 14, 1999 treatment. Department of full-term first-mover birth, parents marry non-relatives, mothers normal eyes, no abnormalities in the body check. Eye examination: visual acuity can not check (patients do not understand), bilateral palpebral fissure symmetry, due to photophobia double up, no movement disorders, no conjunctival hyperemia, corneal transparency, no iris, periocular suspensory ligament and ciliary processes Can see completely. Posterior capsule of the binocular lens corolla cloudy, vitreous opacity, optic disc development is smaller, slightly lighter color. Diagnosis: Congenital absence of both eyes with cataract. The father of proband: 33 years old, his eyes poor eyesight, shame. Visited on March 14, 1999. No abnormalities in the whole body examination Eye examination: visual acuity of 0.04 in the right eye and visual acuity of 0.02 in the left eye; corrected visual acuity: 0.15 in the right eye and 0.1 in the left eye. Binocular fissure size symmetry, due to photophobia turned up, no movement disorders. No conjunctival hyperemia, corneal transparency. No iris, posterior subcapsular coronal coronal; vitreous, fundus, intraocular pressure normal. Diagnosis: Congenital iris with binocular cataracts, refractive error, amblyopia.