Suppr超能文献

家族性先天性视网膜色素成簇症

Familial congenital grouped pigmentation of the retina.

作者信息

Renardel de Lavalette V W, Cruysberg J R, Deutman A F

机构信息

Institute of Ophthalmology, University of Nijmegen, The Netherlands.

出版信息

Am J Ophthalmol. 1991 Oct 15;112(4):406-9. doi: 10.1016/s0002-9394(14)76248-8.

Abstract

Congenital grouped pigmentation of the retina is an uncommon disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula. Detection is usually coincidental during routine ocular examination. We examined a mother and daughter with bilateral grouped pigmentation of the retina. Visual acuity, visual fields, and results of electrophysiologic examination were normal. Autosomal dominant inheritance with variable expression was likely.

摘要

先天性视网膜色素沉着群是一种罕见的疾病,其特征是视网膜一个或多个象限(黄斑除外)出现圆形至椭圆形色素斑群。通常在常规眼科检查中偶然发现。我们检查了一位患有双侧视网膜色素沉着群的母亲和女儿。视力、视野和电生理检查结果均正常。可能为常染色体显性遗传,表现可变。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验