Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.
Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.
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DOI：
10.1076/opge.20.3.183.2280
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发表时间：
1999-09-01
影响因子：
1.2
通讯作者：
Tatlipinar, S
中科院分区：
文献类型：
--
作者：
Kiratli, H;Tatlipinar, S
本文报告一位2.5岁男婴，患有胼胝体发育不全及莱伯氏先天性黑蒙。婴儿以眼球震颤为首发症状。眼底显示局限性黄斑萎缩伴环绕性视网膜色素上皮增生（黄斑缺损样病变）、视网膜小动脉衰减和外周视网膜中极细的色素尘。明视和暗视ERG消失。尽管这是一种极其罕见的相关性，但这些发现沿着神经系统症状应提醒医生立即进行颅脑成像。
A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.