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伴有严重远视的早发性常染色体显性遗传性视网膜色素变性

Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia.

作者信息

Lam B L, Judisch G F

机构信息

Department of Ophthalmology, University of Iowa, Iowa City.

出版信息

Am J Ophthalmol. 1991 Apr 15;111(4):454-6. doi: 10.1016/s0002-9394(14)72380-3.

Abstract

We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.

摘要

我们研究了一个患有早发性常染色体显性遗传性视网膜色素变性、严重远视且眼轴长度小于20毫米的四代家族。患病成员视力下降、夜盲、有典型的周边视网膜色素沉着变化以及具有视网膜色素变性特征的视网膜电图异常。这个家系表明,除了莱伯先天性黑蒙和保留的视网膜动脉旁色素上皮外,还有另一种与远视相关的视网膜色素变性变体。

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