罕见的儿童视网膜疾病:综述。

IF 2.1 4区 医学 Q2 OPHTHALMOLOGY
Indian Journal of Ophthalmology Pub Date : 2025-05-01 Epub Date: 2025-04-24 DOI:10.4103/IJO.IJO_1542_24
Anand Vinekar, Wei-Chi Wu, Birgit Lorenz, Snehal Bavaskar, Audina Berrocal, Ashley Lopez-Cañizares, Nicholas Fung, Wai Ching Lam, Stephanie M Llop, Shwetha Mangalesh, Sengul Ozdek, Cynthia Toth
{"title":"罕见的儿童视网膜疾病:综述。","authors":"Anand Vinekar, Wei-Chi Wu, Birgit Lorenz, Snehal Bavaskar, Audina Berrocal, Ashley Lopez-Cañizares, Nicholas Fung, Wai Ching Lam, Stephanie M Llop, Shwetha Mangalesh, Sengul Ozdek, Cynthia Toth","doi":"10.4103/IJO.IJO_1542_24","DOIUrl":null,"url":null,"abstract":"<p><p>Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.</p>","PeriodicalId":13329,"journal":{"name":"Indian Journal of Ophthalmology","volume":"73 5","pages":"622-636"},"PeriodicalIF":2.1000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Rare pediatric retinal diseases: A review.\",\"authors\":\"Anand Vinekar, Wei-Chi Wu, Birgit Lorenz, Snehal Bavaskar, Audina Berrocal, Ashley Lopez-Cañizares, Nicholas Fung, Wai Ching Lam, Stephanie M Llop, Shwetha Mangalesh, Sengul Ozdek, Cynthia Toth\",\"doi\":\"10.4103/IJO.IJO_1542_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.</p>\",\"PeriodicalId\":13329,\"journal\":{\"name\":\"Indian Journal of Ophthalmology\",\"volume\":\"73 5\",\"pages\":\"622-636\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/IJO.IJO_1542_24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/IJO.IJO_1542_24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/24 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

罕见的儿童视网膜疾病由于其有限的患病率和多样化的临床表现,在诊断和管理方面提出了重大挑战。本文提供了一个全面的审查选择罕见的视网膜疾病影响儿科人群,重点介绍了他们的流行病学,临床特点,诊断方式和治疗干预。通过对当前文献和临床病例研究的系统检查,本综述旨在阐明每种疾病的独特特征和挑战。尽管这些情况很少见,但它们对视觉功能和生活质量的影响需要临床医生和研究人员提高认识,以促进及时诊断,适当管理,并改善受影响儿童的结果,因为他们的视觉系统仍在发育中。此外,在诊断方式方面的进步,如眼底荧光素血管造影、光学相干断层扫描、视网膜电图和基因检测,在提高我们对罕见的儿童视网膜疾病的理解和促进早期干预策略方面的作用。本文的文献选择是通过PubMed、b谷歌Scholar和Cochrane Library数据库进行的。对有关疾病进行了全面系统的调查。相关的评论文章、原始研究、案例系列和报告被审查。此外,对这些来源的参考文献进行了审查,如果它们提供了与主题相关的信息,则将其包括在内。搜索不受出版日期的限制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rare pediatric retinal diseases: A review.

Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
3.80
自引率
19.40%
发文量
1963
审稿时长
38 weeks
期刊介绍: Indian Journal of Ophthalmology covers clinical, experimental, basic science research and translational research studies related to medical, ethical and social issues in field of ophthalmology and vision science. Articles with clinical interest and implications will be given preference.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信