An 8-month-old girl was examined because of corneal clouding and microphthalmos. The fundi of both eyes could not be visualized because of corneal clouding. Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the optic nerves and chiasm, agenesis of the septum pellucidum, thinning of corpus callosum, and a normal pituitary infundibulum. Cerebral cortex and white matter were unremarkable. Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. Endocrine studies revealed normal serum hormone levels. There were no colobomatous lesions and systemic anomalies suggestive of a coloboma syndrome. This case represents the rare association of septo-optic dysplasia with complex microphthalmos.

译文

对一个8个月大的女孩进行了检查,原因是角膜混浊和小眼球。由于角膜混浊,无法看到两只眼睛的眼底。眼眶和颅骨计算机断层扫描和核磁共振成像显示双侧小眼睑和假定的视网膜发育异常,视神经和黑素瘤发育不全,透明膜中隔发育不全,call体变薄以及垂体正常漏斗。脑皮质和白质不明显。其他眼部畸形是右眼前节发育不全和左眼先天性白内障或晶状体异常。内分泌研究显示血清激素水平正常。没有大疱性病变和全身异常提示大肠癌综合征。这种情况代表了视神经发育不良与复杂的小眼球症的罕见关联。

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