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病例为生后7周白人男婴,生后就发现左眼大,瞳孔形状不正常,角膜较右侧大,清亮,有典型的虹膜缺损。母亲正常妊娠,顺产。新生儿重3.4kg。无限畸形家族史,因怀疑先天青光眼入院在麻醉下进行检查。见角膜椭圓形,角膜大小为11×13mm,长轴位于45°方向。角膜构造正常,无后弹力层分裂。鼻下部虹膜缺损,虹膜后可见两个完整清晰的晶体,颞上方者稍大于鼻下方者,二者均不脱臼。除下方晶体之上缘稍凹陷外二个晶体都是圆的。从下方晶体的上缘到鼻侧瞳孔缘有细纤维相联,又自该处瞳孔缘有薄的三角形纤维膜经过虹膜表面到前房角并遮盖部分滤帘,其余滤帘正常。眼底有鼓锤形从视乳头到周边的脉络膜缺损,缺损边缘色素增生。其上之视网膜正常,并有一条正常视网膜血管通过。视神经乳头正常,眼压16mmHg。右眼正常。全身检
Case of 7 weeks after birth, white baby boy, after birth found that the left eye is large, the pupil shape is not normal, the cornea is larger than the right, clear, with a typical iris defect. Mother normal pregnancy, spontaneous delivery. Neonatal heavy 3.4kg. Family history of infinity deformity, due to suspected congenital glaucoma hospitalized under anesthesia. See corneal oval, corneal size of 11 × 13mm, the long axis is located at 45 ° direction. Corneal structure is normal, no post-elastic layer split. The lower part of the nasal iris defects, iris can be seen after two complete and clear crystal, the upper part of the temporal superior is slightly larger than the nose, both are not dislocated. In addition to the upper edge of the crystal slightly below the outer two crystals are round. From the upper edge of the lower crystal to the nasal pupil edge of the fine fibers associated, and from there pupillary margin thin triangular fiber membrane through the iris surface to the anterior chamber angle and cover part of the filter, the rest of the filter normal. The fundus has a drum-shaped choroid defect from the papilla to the periphery, and the hyperplasia of the margin of the defect. The retina on the normal, and there is a normal retinal blood vessels through. Normal optic nerve head, intraocular pressure 16mmHg. Right eye is normal. Whole body examination