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病例1 患儿男,10个月。生后一直不会视物, 畏光,眼球震颤。第一胎足月顺产,家族中无类似眼病患者。体检:全身发育无畸形。眼部检查:双眼球旋转震颤,双眼角膜轻度均匀混浊,瞳孔边缘与角膜缘完全相等,未见虹膜。检眼镜检查:可见双眼晶状体透明,边缘光滑并可见丝带状悬韧带。眼底未见异常。指测眼压正常。头颅CT未见异常。诊断:先天性无虹膜;先天性眼球震颤;先天性角膜混浊。
Case 1 children male, 10 months. After birth will not be material, photophobia, nystagmus. The first full-term fetus, family no similar eye disease patients. Physical examination: whole body development without deformity. Eye examination: twisting of both eyes tremor, bilateral mild corneal opacity, pupil edge and corneal margin completely equal, no iris. Optometry: visible binocular lens transparent, smooth edges and visible ribbon-shaped suspension ligament. No abnormalities in the fundus. Means normal intraocular pressure. Head CT no abnormalities. Diagnosis: Congenital non-iris; Congenital nystagmus; Congenital corneal opacity.