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无黄斑视网膜劈裂的常染色体隐性青少年视网膜劈裂症

Autosomal juvenile retinoschisis without foveal retinoschisis.

作者信息

Yamaguchi K, Hara S

机构信息

Department of Ophthalmology, School of Medicine, Tohoku University, Japan.

出版信息

Br J Ophthalmol. 1989 Jun;73(6):470-3. doi: 10.1136/bjo.73.6.470.

Abstract

We describe hereditary retinoschisis without foveal retinoschisis in a girl (the product of a consanguineous marriage) and her father. The father had peripheral retinoschisis with dendritic changes of the retina and good visual acuity. The daughter had peripheral retinoschisis complicated by vitreous haemorrhage and retinal detachment. Neither had foveal retinoschisis. The pattern in a scotopic single-flash electroretinogram differentiated this condition from other forms of retinoschisis. We believe that these cases represent the autosomal recessive form of juvenile retinoschisis without foveal retinoschisis.

摘要

我们描述了一名女孩(近亲结婚的后代)及其父亲患有无黄斑视网膜劈裂的遗传性视网膜劈裂症。父亲患有周边视网膜劈裂症,伴有视网膜的树枝状改变,视力良好。女儿患有周边视网膜劈裂症,并伴有玻璃体积血和视网膜脱离。两人均无黄斑视网膜劈裂症。暗视单闪光视网膜电图的模式将这种情况与其他形式的视网膜劈裂症区分开来。我们认为这些病例代表了无黄斑视网膜劈裂症的常染色体隐性青少年视网膜劈裂症形式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/383e/1041771/1cc88caeb6ab/brjopthal00598-0073-a.jpg

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