• 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

[Morphological and functional findings in a family with aniridia (author's transl)].

作者信息

Weber U, Petersen J

出版信息

Klin Monbl Augenheilkd. 1981 Jun;178(6):439-45. doi: 10.1055/s-2008-1057237.

DOI:10.1055/s-2008-1057237
PMID:6973663
Abstract

The history of a family with aniridia (11 patients) is presented. Morphologically the following changes were found: Ptosis, microcornea, anterior embryotoxon, defects of the iris ranging from corectopia and coloboma to hypoplasia of the iris and clinical aniridia cataracts and hypoplasia of the fovea. Functionally there was reduced visual acuity (best vision 0.2), nystagmus and strabismus. Dark adaptation, electrooculogram, photopic and scotopic electroretinogram were within normal limits. The patients were found to have a red-green color vision deficiency, which was perhaps caused by foveal hypoplasia and nystagmus, and a trito defect which could not be explained.

摘要

相似文献

1
[Morphological and functional findings in a family with aniridia (author's transl)].
Klin Monbl Augenheilkd. 1981 Jun;178(6):439-45. doi: 10.1055/s-2008-1057237.
2
Corectopia with nystagmus, absent foveal reflexes and corneal changes.
Acta Ophthalmol (Copenh). 1981 Feb;59(1):85-93. doi: 10.1111/j.1755-3768.1981.tb06715.x.
3
The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl).非典型缺损及虹膜缺陷在遗传性无虹膜综合征诊断中的意义(作者译)
Klin Monbl Augenheilkd. 1973 Nov;163(5):528-42.
4
Variable expressivity of ocular associations of foveal hypoplasia in a family.家族性黄斑发育不良的眼部相关表现度可变。
Eye (Lond). 2009 Aug;23(8):1735-9. doi: 10.1038/eye.2009.180. Epub 2009 Jul 10.
5
Aniridia with congenital ptosis and glaucoma: a family study.
Ann Ophthalmol. 1988 Feb;20(2):53-7.
6
[Hereditary foveal hypoplasia - clinical differentiation].[遗传性黄斑发育不全——临床鉴别]
Klin Monbl Augenheilkd. 2003 Aug;220(8):559-62. doi: 10.1055/s-2003-41874.
7
[On an unusual congenital and familial neuro-ophthalmological syndrome (palpebral ptosis, aniridia, cataract, nystagmus, optic subatrophy)].关于一种不寻常的先天性和家族性神经眼科综合征(睑下垂、无虹膜、白内障、眼球震颤、视神经萎缩)
Riv Otoneurooftalmol. 1966 Mar-Apr;41(2):81-104.
8
Variability of iris defects in autosomal dominant aniridia.常染色体显性无虹膜症中虹膜缺损的变异性。
Can J Ophthalmol. 1994 Feb;29(1):25-9.
9
[Aniridia].[无虹膜]
Cesk Slov Oftalmol. 2002 May;58(3):176-9.
10
[Familial occurrence of congenital aniridia].
Klin Oczna. 1992 May-Jun;94(5-6):159-60.

引用本文的文献

1
Color Vision in Aniridia.虹膜缺失症的色觉。
Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):2142-2152. doi: 10.1167/iovs.17-23047.
2
Inferior ectopic pupil and typical ocular coloboma in RCS rats.RCS大鼠中的低位异位瞳孔和典型眼裂缺损
Comp Med. 2011 Aug;61(4):378-84.