• 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

常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）。

Autosomal dominant vitreoretinochoroidopathy (ADVIRC).

作者信息

Blair N P, Goldberg M F, Fishman G A, Salzano T

出版信息

Br J Ophthalmol. 1984 Jan;68(1):2-9. doi: 10.1136/bjo.68.1.2.

DOI:10.1136/bjo.68.1.2
PMID:6689931
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1040228/
Abstract

We report the second family recognised to have autosomal dominant vitreoretinochoroidopathy. The clinical features were (1) autosomal dominant inheritance; (2) peripheral, coarse pigmentary degeneration of the fundus for 360 degrees, with a relatively discrete posterior border in the equatorial region (this finding may be pathognomonic); (3) superficial punctate yellowish-white opacities in the retina; (4) various vascular abnormalities; (5) breakdown of the blood-retinal barrier; (6) retinal neovascularisation; (7) vitreous abnormalities; and (8) choroidal atrophy. Visual reduction was mainly due to macular oedema or vitreous haemorrhage.

摘要

我们报告了第二个被确认患有常染色体显性遗传性玻璃体视网膜脉络膜病变的家族。其临床特征为：（1）常染色体显性遗传；（2）眼底360度周边部出现粗大的色素性退变，在赤道区域有相对清晰的后界（这一发现可能具有诊断意义）；（3）视网膜内有散在的点状黄白色混浊；（4）各种血管异常；（5）血视网膜屏障破坏；（6）视网膜新生血管形成；（7）玻璃体异常；（8）脉络膜萎缩。视力下降主要是由于黄斑水肿或玻璃体出血。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/ccd40ec6dc18/brjopthal00145-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/f4c831b08fa6/brjopthal00145-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/d90533e4a5d1/brjopthal00145-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/916de9046f6a/brjopthal00145-0014-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/91b009249389/brjopthal00145-0014-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/3a33bf1992f8/brjopthal00145-0014-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/db20b02cea0a/brjopthal00145-0014-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/c40cd43970ae/brjopthal00145-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/c1a6eee83938/brjopthal00145-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/a01fa9cfac8f/brjopthal00145-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/ccd40ec6dc18/brjopthal00145-0018-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/f4c831b08fa6/brjopthal00145-0013-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/d90533e4a5d1/brjopthal00145-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/916de9046f6a/brjopthal00145-0014-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/91b009249389/brjopthal00145-0014-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/3a33bf1992f8/brjopthal00145-0014-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/db20b02cea0a/brjopthal00145-0014-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/c40cd43970ae/brjopthal00145-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/c1a6eee83938/brjopthal00145-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/a01fa9cfac8f/brjopthal00145-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0025/1040228/ccd40ec6dc18/brjopthal00145-0018-a.jpg

相似文献

1
Autosomal dominant vitreoretinochoroidopathy (ADVIRC).常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）。
Br J Ophthalmol. 1984 Jan;68(1):2-9. doi: 10.1136/bjo.68.1.2.
2
Autosomal dominant vitreoretinochoroidopathy.常染色体显性玻璃体视网膜脉络膜病变
Arch Ophthalmol. 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008.
3
Autosomal dominant vitreoretinochoroidopathy.常染色体显性遗传性玻璃体视网膜脉络膜病变
Retina. 1997;17(4):294-9. doi: 10.1097/00006982-199707000-00003.
4
Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina.弥漫性脉络膜萎缩的鉴别诊断。弥漫性脉络膜毛细血管萎缩、无脉络膜症以及脉络膜和视网膜回旋状萎缩。
Retina. 1985 Winter-Spring;5(1):30-7.
5
Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment.常染色体显性遗传性青少年玻璃体视网膜变性与视网膜脱离
Int Ophthalmol. 1986 Apr;9(1):45-60. doi: 10.1007/BF00225938.
6
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.常染色体显性遗传性玻璃体视网膜脉络膜病变的临床及电生理表现：一个新家系的报告
Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82. doi: 10.1007/s004170100318.
7
A family with vitreo-tapeto-retino-choroidal degeneration with dominant transmission.一个具有显性遗传的玻璃体-脉络膜视网膜变性家族。
Acta Ophthalmol (Copenh). 1980;58(1):148-57. doi: 10.1111/j.1755-3768.1980.tb04579.x.
8
Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Arch Ophthalmol. 1993 Feb;111(2):194-6. doi: 10.1001/archopht.1993.01090020048021.
9
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).
Am J Ophthalmol. 2006 May;141(5):940-3. doi: 10.1016/j.ajo.2005.11.041.
10
Autosomal dominant central pigment epithelial and choroidal degeneration.常染色体显性遗传性中央色素上皮和脉络膜变性
Ophthalmology. 1982 Dec;89(12):1407-13. doi: 10.1016/s0161-6420(82)34621-7.

引用本文的文献

1
Variable expressivity of -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.三代家系中与常染色体显性玻璃体视网膜脉络膜病变（ADVIRC）相关的可变表达
BMJ Open Ophthalmol. 2021 Oct 21;6(1):e000813. doi: 10.1136/bmjophth-2021-000813. eCollection 2021.
2
Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy.已知最年长的常染色体显性玻璃体视网膜脉络膜病变患者的眼部组织病理学和免疫组化分析
Ophthalmol Retina. 2018 Apr;2(4):360-378. doi: 10.1016/j.oret.2017.08.001.
3
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC).

本文引用的文献

1
Visual loss from retinal oedema in autosomal dominant exudative vitreoretinopathy.常染色体显性遗传性渗出性玻璃体视网膜病变中视网膜水肿导致的视力丧失。
Br J Ophthalmol. 1982 Oct;66(10):627-9. doi: 10.1136/bjo.66.10.627.
2
Autosomal dominant vitreoretinochoroidopathy.常染色体显性玻璃体视网膜脉络膜病变
Arch Ophthalmol. 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008.
3
Metabolic tapetoretinal degenerations.代谢性视网膜色素变性
常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）的长期变化
Graefes Arch Clin Exp Ophthalmol. 2018 Feb;256(2):441-442. doi: 10.1007/s00417-017-3810-y. Epub 2017 Oct 3.
4
Bestrophin 1 and retinal disease.贝斯特罗芬1与视网膜疾病。
Prog Retin Eye Res. 2017 May;58:45-69. doi: 10.1016/j.preteyeres.2017.01.006. Epub 2017 Jan 30.
5
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).来自一个常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）家族的诱导多能干细胞衍生视网膜色素上皮细胞中BEST1的定位错误。
Sci Rep. 2016 Sep 22;6:33792. doi: 10.1038/srep33792.
6
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1).视网膜电图的光峰依赖于电压门控钙通道，并受最佳rophin（best-1）拮抗。
J Gen Physiol. 2006 May;127(5):577-89. doi: 10.1085/jgp.200509473.
Surv Ophthalmol. 1982 May-Jun;26(6):293-333. doi: 10.1016/0039-6257(82)90124-2.
4
Familial exudative vitreoretinopathy.家族性渗出性玻璃体视网膜病变
Am J Ophthalmol. 1969 Oct;68(4):578-94. doi: 10.1016/0002-9394(69)91237-9.
5
Bietti's tapetoretinal degeneration with marginal corneal dystrophy.伴有边缘性角膜营养不良的比埃蒂氏视网膜色素变性
Am J Ophthalmol. 1968 Jan;65(1):53-60. doi: 10.1016/0002-9394(68)91028-3.
6
Snowflake degeneration in hereditary vitreoretinal degeneration.遗传性玻璃体视网膜变性中的雪花样变性
Am J Ophthalmol. 1974 Feb;77(2):143-53. doi: 10.1016/0002-9394(74)90665-5.
7
Dominantly inherited cystoid macular edema.
Am J Ophthalmol. 1976 Oct;82(4):540-8. doi: 10.1016/0002-9394(76)90540-7.
8
Macular lesions associated with retinitis pigmentosa.与色素性视网膜炎相关的黄斑病变。
Arch Ophthalmol. 1977 May;95(5):798-803. doi: 10.1001/archopht.1977.04450050076006.
9
Dominant cystoid macular dystrophy.显性囊样黄斑营养不良
Am J Ophthalmol. 1977 Feb;83(2):234-41. doi: 10.1016/0002-9394(77)90622-5.
10
Hereditary progressive arthro-ophthalmopathy of Stickler.
Am J Ophthalmol. 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x.