Suppr超能文献

[视锥细胞营养不良和黄斑营养不良]

[Stargardt's disease and fundus flavimaculatus].

作者信息

François P, Turut P, Puech B, Hache J C

出版信息

Arch Ophtalmol Rev Gen Ophtalmol. 1975 Nov;35(11):817-46.

PMID:131535
Abstract

From their sixty two personnal observations and a study of literature cases, the authors demonstrate that the ophthalmoscopic fluoroscopic and functionnal aspects of macular lesions are strictly identical in Stargardt disease and in Fundus Flavimaculatus. Their transmission is also identical, generally autosomal and recessive, more rarely dominant. Flavimaculate lesions situated in perimacular or inperipheric area may coexist in the same family, and certainly correspond to variable forms of expressivity of a unique gene. The authors discuss the nosologic problems brought by these two affections and other juvenile macular degenerations. Their conclusions are as follows: The same disease may present three different forms: -- Pure Stargardt disease; -- Stargardt disease with perimacular flavimaculate crown; -- Stargardt disease with peripheric Fundus Flavimaculatus.

摘要

通过对62例个人观察病例以及文献病例的研究,作者证明在斯塔加特病和黄斑部色素沉着症中,黄斑病变的检眼镜、荧光镜及功能方面表现完全相同。它们的遗传方式也相同,通常为常染色体隐性遗传,很少为显性遗传。位于黄斑周边或周边区域的黄斑部色素沉着性病变可能在同一家族中共存,并且肯定对应于单一基因的不同表达形式。作者讨论了这两种疾病以及其他青少年黄斑变性所带来的疾病分类学问题。他们的结论如下:同一种疾病可能呈现三种不同形式:——单纯性斯塔加特病;——伴有黄斑周边色素沉着性冠状物的斯塔加特病;——伴有周边部黄斑部色素沉着症的斯塔加特病。

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