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与视锥视杆营养不良相关的家族性黄斑中心凹视网膜劈裂症。

Familial foveal retinoschisis associated with a rod-cone dystrophy.

作者信息

Noble K G, Carr R E, Siegel I M

出版信息

Am J Ophthalmol. 1978 Apr;85(4):551-7. doi: 10.1016/s0002-9394(14)75254-7.

Abstract

A brother and sister born of a consanguinous marriage had bilateral foveal retinoschisis and a generalized rod-cone dysfunction. This was associated with nyctalopia, hyperopia, minimal vitreous opacities in the sister, a paramacular tapetal sheen reflex, normal retinal vessels, an abnormal electroretinogram, and a normal electro-oculogram in the less affected brother. Foveal retinoschisis is not pathognomonic for x-chromosome-linked juvenile retinoschisis. It may be seen as a manifestation of a macular dystrophy or associated with a generalized tapetoretinal dystrophy.

摘要

一对近亲结婚所生的兄妹患有双侧黄斑部视网膜劈裂症和广泛性视杆-视锥细胞功能障碍。这与夜盲、远视、妹妹有轻度玻璃体混浊、黄斑旁脉络膜反光、视网膜血管正常、视网膜电图异常以及病情较轻的哥哥眼电图正常有关。黄斑部视网膜劈裂症并非X染色体连锁青少年视网膜劈裂症的特征性表现。它可能是黄斑营养不良的一种表现,或与广泛性脉络膜视网膜营养不良相关。

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