• 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

睑裂狭小、上睑下垂和内眦赘皮综合征(BPES)患者斜视和屈光不正的发生率。

The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).

作者信息

Dawson E L, Hardy T G, Collin J R, Lee J P

机构信息

Moorfields Eye Hospital, City Road, London EC1V 2PD, England, U.K.

出版信息

Strabismus. 2003 Sep;11(3):173-7. doi: 10.1076/stra.11.3.173.16645.

DOI:10.1076/stra.11.3.173.16645
PMID:14710475
Abstract

A retrospective review was carried out of 204 patients with blepharophimosis, (blepharo) ptosis and epicanthus inversus syndrome (BPES). Of these, 94 (46%) had an autosomal dominant family history of BPES. Forty (20%) had manifest strabismus. Of these, 28 (70%) had esotropia, 10 (25%) had exotropia and 2 (5%) had hypertropia. Twelve (6%) patients had nystagmus. Seventy (34%) patients had a significant refractive error requiring spectacles. Twenty-one (30%) of these patients had anisometropic hypermetropia and 24 (34%) had anisometropic myopia. Forty-three patients had bilateral amblyopia and 40 had unilateral amblyopia, with 26 (65%) of these undergoing occlusion treatment. Of these, 14 had strabismus and refractive error, 7 refractive error only, 2 strabismus only and 3 neither refractive error nor strabismus. We conclude that there is a higher incidence of strabismus and refractive error in patients with BPES than in the normal population.

摘要

对204例睑裂狭小、(睑)下垂和内眦赘皮综合征(BPES)患者进行了回顾性研究。其中,94例(46%)有BPES的常染色体显性家族史。40例(20%)有明显斜视。其中,28例(70%)为内斜视,10例(25%)为外斜视,2例(5%)为上斜视。12例(6%)患者有眼球震颤。70例(34%)患者有需要配镜的明显屈光不正。其中,21例(30%)为屈光参差性远视,24例(34%)为屈光参差性近视。43例患者有双侧弱视,40例有单侧弱视,其中26例(65%)接受了遮盖治疗。其中,14例有斜视和屈光不正,7例仅有屈光不正,2例仅有斜视,3例既无屈光不正也无斜视。我们得出结论,BPES患者斜视和屈光不正的发生率高于正常人群。

相似文献

1
The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).睑裂狭小、上睑下垂和内眦赘皮综合征(BPES)患者斜视和屈光不正的发生率。
Strabismus. 2003 Sep;11(3):173-7. doi: 10.1076/stra.11.3.173.16645.
2
The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome.睑裂狭小-上睑下垂-内眦赘皮综合征中影响视觉发育的因素。
J Pediatr Ophthalmol Strabismus. 2006 Sep-Oct;43(5):285-8. doi: 10.3928/01913913-20060901-03.
3
Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.印度人群中眼睑皮肤松弛症、上睑下垂和内眦赘皮综合征的临床、放射学和遗传学特征。
Invest Ophthalmol Vis Sci. 2013 Apr 26;54(4):2985-91. doi: 10.1167/iovs.13-11794.
4
What's your diagnosis? Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).你的诊断是什么?睑裂狭小-上睑下垂-内眦赘皮综合征(BPES)。
J Pediatr Ophthalmol Strabismus. 2009 Sep-Oct;46(5):264, 299. doi: 10.3928/01913913-20090903-02.
5
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.睑裂狭小症:对重度上睑下垂患者早期手术的建议。
Clin Exp Ophthalmol. 2003 Apr;31(2):138-42. doi: 10.1046/j.1442-9071.2003.00621.x.
6
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome睑裂狭小、上睑下垂及内眦赘皮综合征
7
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).睑裂狭小-上睑下垂-内眦赘皮综合征(BPES)。
Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x.
8
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome.一名患有睑裂狭小、上睑下垂和内眦赘皮综合征的3岁女孩出现高促性腺激素性性腺功能减退。
Horm Res. 1998 Sep;50(3):190-2. doi: 10.1159/000023272.
9
[Refractive errors, amblyopia and strabismus in congenital ptosis].[先天性上睑下垂中的屈光不正、弱视和斜视]
Klin Monbl Augenheilkd. 1984 Jan;184(1):37-9. doi: 10.1055/s-2008-1054405.
10
Refractive errors and strabismus in Down's syndrome in Korea.韩国唐氏综合征患者的屈光不正与斜视
Korean J Ophthalmol. 2012 Dec;26(6):451-4. doi: 10.3341/kjo.2012.26.6.451. Epub 2012 Nov 12.

引用本文的文献

1
Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.II型睑裂狭小、上睑下垂和内眦赘皮综合征中一种新型FOXL2突变的功能分析及基因型-表型相关性的阐明。
Hum Genomics. 2025 Apr 18;19(1):41. doi: 10.1186/s40246-025-00752-7.
2
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.通过全外显子测序揭示了一个罕见的眼睑裂狭小、上睑下垂和内眦赘皮综合征家系中 FOXL2 变异 c.672_701dup 的扩展表型谱。
BMC Ophthalmol. 2023 Nov 7;23(1):446. doi: 10.1186/s12886-023-03189-5.
3
Application of e-PTFE Frontalis Suspension in the Treatment of Congenital Ptosis in Children.
e-PTFE额肌悬吊术在儿童先天性上睑下垂治疗中的应用
Front Surg. 2022 May 16;9:904307. doi: 10.3389/fsurg.2022.904307. eCollection 2022.
4
The Genetic and Clinical Features of -Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.- 相关的睑裂狭小、上睑下垂和内眦赘皮综合征的遗传和临床特征。
Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364.
5
Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis.先天性上睑下垂患者弱视的患病率:一项系统评价和Meta分析。
Int J Ophthalmol. 2019 Jul 18;12(7):1187-1193. doi: 10.18240/ijo.2019.07.21. eCollection 2019.
6
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.对中国睑裂狭小、上睑下垂、内眦赘皮综合征患者中发现的新型FOXL2突变的功能研究。
BMC Med Genet. 2018 Jul 20;19(1):121. doi: 10.1186/s12881-018-0631-8.
7
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.患有睑裂狭小-上睑下垂-内眦赘皮综合征儿童的单侧前部永存胎儿血管:一项手术挑战。
Indian J Ophthalmol. 2016 Jun;64(6):469-71. doi: 10.4103/0301-4738.187681.
8
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.四个患有睑裂狭小综合征的中国家系中叉头转录因子2(FOXL2)基因突变的鉴定。
Mol Vis. 2013 Nov 16;19:2298-305. eCollection 2013.
9
[Ptosis surgery. Current aspects].[上睑下垂手术。当前状况]
Ophthalmologe. 2012 May;109(5):430-7. doi: 10.1007/s00347-012-2607-y.
10
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex or consummate myotonic dystrophy?与睑裂狭小、蓝点状白内障及原发性下斜肌亢进相关的色素性视网膜炎:一种新的综合征组合还是完全型强直性肌营养不良?
Indian J Ophthalmol. 2009 Jul-Aug;57(4):325-6. doi: 10.4103/0301-4738.53068.