• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

[Albescent punctate retinopathy with central pigment epithelium atrophy].

作者信息

Weber U, Hennekes R

出版信息

Klin Monbl Augenheilkd. 1984 Jan;184(1):51-4. doi: 10.1055/s-2008-1054410.

DOI:10.1055/s-2008-1054410
PMID:6608625
Abstract

A 45-year-old Italian patient suffering from punctate retinopathy associated with a central atrophy of the retinal pigment epithelium is described. He has suffered from nyctalopia since early childhood, and over the last 3 years has become increasingly susceptible to dazzling. Funktion tests revealed pathologic monofunctional dark adaptation of cones, centrocecal scotoma, a pathologic electro-oculogram and residual a-waves at high light stimulus intensities in the electroretinogram. An autosomal-recessive mode of inheritance is assumed, as 4 of the patient's 9 siblings have the same signs.

摘要

相似文献

1
[Albescent punctate retinopathy with central pigment epithelium atrophy].
Klin Monbl Augenheilkd. 1984 Jan;184(1):51-4. doi: 10.1055/s-2008-1054410.
2
[New findings in Oguchi disease].[小口病的新发现]
Klin Monbl Augenheilkd. 1988 Mar;192(3):239-43. doi: 10.1055/s-2008-1050109.
3
Fundus albipunctatus and other flecked retina syndromes.白点状眼底及其他视网膜斑点综合征。
J Am Optom Assoc. 1999 Sep;70(9):571-80.
4
Crystalline retinopathy.
Am J Ophthalmol. 1978 Jul;86(1):81-8. doi: 10.1016/0002-9394(78)90019-3.
5
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.显性迟发性视网膜变性中的视网膜色素上皮下沉积物
Invest Ophthalmol Vis Sci. 1996 Aug;37(9):1772-82.
6
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.由线粒体DNA 3243 tRNA(Leu)A到G突变引起的色素性视网膜营养不良以及母系遗传糖尿病和耳聋综合征。
Ophthalmology. 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0.
7
Arcuate pigment epithelial dystrophy.弓形色素上皮营养不良
Ann Ophthalmol. 1983 Dec;15(12):1118-24.
8
[Hereditary degenerative diseases of the retinal periphery].
Ber Zusammenkunft Dtsch Ophthalmol Ges. 1977;74:481-529.
9
[Congenital rubella retinopathy--a progressive disease].
Klin Monbl Augenheilkd. 1986 Oct;189(4):326-9. doi: 10.1055/s-2008-1050812.
10
An inherited retinopathy in collies. A light and electron microscopic study.柯利犬的一种遗传性视网膜病。光镜与电镜研究。
Invest Ophthalmol Vis Sci. 1980 Nov;19(11):1281-94.

引用本文的文献

1
Structure of SWI/SNF chromatin remodeller RSC bound to a nucleosome.SWI/SNF 染色质重塑酶 RSC 与核小体结合的结构。
Nature. 2020 Mar;579(7799):448-451. doi: 10.1038/s41586-020-2088-0. Epub 2020 Mar 11.