Gerhard J P, Brini A, Willard D, Rohmer A, Messer J
Klin Monbl Augenheilkd. 1978 Apr;172(4):546-8.
A Study is described of a family in which four children of the same generation died during early childhood; three of them had an obvious hydrocephalus. Two of the latter could be examined clinically, and their eyes removed for pathology. One of them presented clinically bilateral leucocoria; histology showed a total detachment of a dysplastic retina, with absence of development of the vitreous. The other child had apparently normal eyes. Yet on microscopical examination there was a discrete retinal dysplasia without retinal detachment in both eyes, and a persistent hyaloid artery, in one. This association of hydrocephalus with retinal dysplasia is clinically and genetically different from other types of retinal dysplasia.
本文描述了一个家族的研究情况,该家族中同一代的四个孩子在幼儿期死亡;其中三个有明显的脑积水。后两个孩子接受了临床检查,并摘除眼睛进行病理检查。其中一个临床检查显示双侧白瞳症;组织学检查显示发育异常的视网膜完全脱离,玻璃体未发育。另一个孩子的眼睛外观明显正常。然而,显微镜检查发现双眼有离散性视网膜发育异常但无视网膜脱离,其中一只眼睛有永存玻璃体动脉。这种脑积水与视网膜发育异常的关联在临床和遗传学上与其他类型的视网膜发育异常不同。