• 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

基于基因检测的儿童孔源性视网膜脱离病因因素分析。

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

机构信息

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

出版信息

Am J Ophthalmol. 2020 Oct;218:330-336. doi: 10.1016/j.ajo.2020.02.015. Epub 2020 Feb 27.

DOI:10.1016/j.ajo.2020.02.015
PMID:32112773
Abstract

PURPOSE

The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children.

DESIGN

Consecutive, cross-sectional study.

METHODS

In this study, 112 operative eyes of 102 patients ≤18 years of age with nontraumatic RRD were included. Comprehensive ophthalmic examinations were performed in all patients. Genetic testing was performed in 34 patients with hereditary congenital/developmental diseases. The etiology of RRD was analyzed.

RESULTS

The average age was 12.2 ± 4.5 years (range, 1-18 years). The percentages of male and female patients were 74.5% (76/102) and 25.5% (26/102), respectively. The most common etiologic factors were congenital/developmental anomalies (51/102, 50%), followed by simple myopia (34/102, 33.3%) and previous intraocular surgery (6/102, 5.9%). More than half (31/51, 60.8%) of the patients with congenital/developmental anomalies had familial exudative vitreoretinopathy. Further analysis of the underlying etiologic factors based on age revealed that the most common etiology of RRD in patients ≤12 years of age was congenital/developmental anomalies (28/48, 58.3%); however, simple myopia was the major etiologic factor in patients >12 years of age (27/54, 50%).

CONCLUSIONS

Congenital/developmental diseases were the most common etiologies of pediatric nontraumatic RRD in China. Familial exudative vitreoretinopathy accounted for most of the congenital/developmental anomalies.

摘要

目的

本研究旨在探讨儿童非外伤性孔源性视网膜脱离(RRD)的病因和临床特征。

设计

连续、横断面研究。

方法

本研究纳入了 102 例年龄≤18 岁的 112 只手术眼的非外伤性 RRD 患者。所有患者均行全面眼科检查。对 34 例遗传性先天性/发育性疾病患者进行基因检测。分析 RRD 的病因。

结果

平均年龄为 12.2±4.5 岁(范围 1-18 岁)。男、女患者比例分别为 74.5%(76/102)和 25.5%(26/102)。最常见的病因因素是先天性/发育性异常(51/102,50%),其次是单纯近视(34/102,33.3%)和既往眼内手术(6/102,5.9%)。先天性/发育性异常患者中超过一半(31/51,60.8%)有家族性渗出性玻璃体视网膜病变。根据年龄进一步分析潜在病因因素发现,≤12 岁患者 RRD 最常见的病因是先天性/发育性异常(28/48,58.3%);而>12 岁患者主要病因是单纯近视(27/54,50%)。

结论

在中国,先天性/发育性疾病是儿童非外伤性 RRD 的最常见病因。家族性渗出性玻璃体视网膜病变占先天性/发育性异常的大多数。

相似文献

1
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.基于基因检测的儿童孔源性视网膜脱离病因因素分析。
Am J Ophthalmol. 2020 Oct;218:330-336. doi: 10.1016/j.ajo.2020.02.015. Epub 2020 Feb 27.
2
Stickler syndrome: exploring prophylaxis for retinal detachment.斯蒂克勒综合征:探讨视网膜脱离的预防。
Curr Opin Ophthalmol. 2019 Sep;30(5):306-313. doi: 10.1097/ICU.0000000000000599.
3
IMPACT OF ETIOLOGY ON THE OUTCOME OF PEDIATRIC RHEGMATOGENOUS RETINAL DETACHMENT.病因对小儿孔源性视网膜脱离预后的影响。
Retina. 2019 Jan;39(1):118-126. doi: 10.1097/IAE.0000000000001908.
4
Pediatric rhegmatogenous retinal detachment in taiwan.台湾地区小儿孔源性视网膜脱离
Retina. 2006 Apr;26(4):410-4. doi: 10.1097/01.iae.0000238546.51756.cd.
5
Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment.家族性渗出性玻璃体视网膜病变相关性孔源性视网膜脱离的下一代测序。
Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2659-2666. doi: 10.1167/iovs.19-26619.
6
[Primary Diseases of 393 Cases of Pediatric Retinal Detachment and the Distribution of Clinical Characteristics].[393例小儿视网膜脱离的原发疾病及临床特征分布]
Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Nov;52(6):1016-1021. doi: 10.12182/20211160305.
7
Pediatric rhegmatogenous retinal detachment in East Asians.东亚地区儿童孔源性视网膜脱离
Ophthalmology. 2005 Nov;112(11):1890-5. doi: 10.1016/j.ophtha.2005.06.019.
8
Pediatric rhegmatogenous retinal detachment.小儿孔源性视网膜脱离
Retina. 2001;21(2):101-6. doi: 10.1097/00006982-200104000-00001.
9
Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1.与LRPAP1隐性突变相关的非综合征性高度近视性孔源性视网膜脱离
Ophthalmol Retina. 2020 Jan;4(1):77-83. doi: 10.1016/j.oret.2019.08.005. Epub 2019 Aug 22.
10
Clinical characteristics and surgical outcomes of pediatric rhegmatogenous retinal detachment.小儿孔源性视网膜脱离的临床特征及手术结果
Int Ophthalmol. 2016 Aug;36(4):521-5. doi: 10.1007/s10792-015-0158-3. Epub 2015 Dec 1.

引用本文的文献

1
Pediatric Rhegmatogenous Retinal Detachments: Etiologies, Clinical Course, and Surgical Outcomes.小儿孔源性视网膜脱离:病因、临床病程及手术结果
J Vitreoretin Dis. 2023 Feb 3;7(2):139-143. doi: 10.1177/24741264221150595. eCollection 2023 Mar-Apr.
2
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.CTNNB1 基因突变患者的家族性渗出性玻璃体视网膜病变和全身异常。
Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):18. doi: 10.1167/iovs.64.2.18.
3
The effect of age on phenotype of primary rhegmatogenous retinal detachment.
年龄对原发性孔源性视网膜脱离表型的影响。
Eye (Lond). 2023 Apr;37(6):1114-1122. doi: 10.1038/s41433-022-02061-y. Epub 2022 Apr 26.
4
[Primary Diseases of 393 Cases of Pediatric Retinal Detachment and the Distribution of Clinical Characteristics].[393例小儿视网膜脱离的原发疾病及临床特征分布]
Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Nov;52(6):1016-1021. doi: 10.12182/20211160305.