黄斑变性疾病

K. Delijani, Dylan Sadowsky, Kahlo Baniadam, D. Popovsky, W. Davis
{"title":"黄斑变性疾病","authors":"K. Delijani, Dylan Sadowsky, Kahlo Baniadam, D. Popovsky, W. Davis","doi":"10.52504/001c.36966","DOIUrl":null,"url":null,"abstract":"Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common. Each variant may have distinct clinical features, however, patients generally experience bilateral central vision loss and poor visual acuity ranging from 20/70 to 20/200. Diagnosis is often made through clinical presentation and may be assisted by fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), fundus autofluorescence (FAF) or electrophysiological assessment. Currently, there are multiple classification systems of Stargardt disease that include Fishman STGD classification system, groupings due to electroretinography (ERG) findings, and types based on FAF imaging. Though there are currently no clinically proven treatments for Stargardt disease, physicians often recommend patients avoid direct sunlight, smoking cigarettes, and excessive intake of vitamin A. Potential treatments currently under investigation include strategies using gene replacement therapy, stem cell therapy, and pharmacologic agents. The purpose of this paper is to review the current knowledge of the genetics, classifications, and treatments of Stargardt disease, while underscoring the need for further research in potential treatment routes.","PeriodicalId":340325,"journal":{"name":"Georgetown Medical Review","volume":"323 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"29","resultStr":"{\"title\":\"Stargardt Disease\",\"authors\":\"K. Delijani, Dylan Sadowsky, Kahlo Baniadam, D. Popovsky, W. Davis\",\"doi\":\"10.52504/001c.36966\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common. Each variant may have distinct clinical features, however, patients generally experience bilateral central vision loss and poor visual acuity ranging from 20/70 to 20/200. Diagnosis is often made through clinical presentation and may be assisted by fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), fundus autofluorescence (FAF) or electrophysiological assessment. Currently, there are multiple classification systems of Stargardt disease that include Fishman STGD classification system, groupings due to electroretinography (ERG) findings, and types based on FAF imaging. Though there are currently no clinically proven treatments for Stargardt disease, physicians often recommend patients avoid direct sunlight, smoking cigarettes, and excessive intake of vitamin A. Potential treatments currently under investigation include strategies using gene replacement therapy, stem cell therapy, and pharmacologic agents. The purpose of this paper is to review the current knowledge of the genetics, classifications, and treatments of Stargardt disease, while underscoring the need for further research in potential treatment routes.\",\"PeriodicalId\":340325,\"journal\":{\"name\":\"Georgetown Medical Review\",\"volume\":\"323 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-07-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"29\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Georgetown Medical Review\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.52504/001c.36966\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Georgetown Medical Review","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52504/001c.36966","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 29

摘要

Stargardt病是一种进展缓慢的黄斑营养不良,发病最常见于儿童和年轻人。许多基因被发现与这种疾病有关,视网膜特异性ATP结合盒转运体(ABCA4)基因的变异是最常见的。每种变体可能具有不同的临床特征,然而,患者通常会出现双侧中央视力丧失和视力差,视力范围在20/70至20/200之间。诊断通常通过临床表现,并可通过荧光素血管造影(FA),光谱域光学相干断层扫描(OCT),眼底自身荧光(FAF)或电生理评估辅助。目前,Stargardt病有多种分类系统,包括Fishman STGD分类系统,根据视网膜电图(ERG)结果进行分组,以及根据FAF成像进行分型。虽然目前尚无临床证实的治疗Stargardt病的方法,但医生经常建议患者避免阳光直射、吸烟和过量摄入维生素a。目前正在研究的潜在治疗方法包括使用基因替代疗法、干细胞疗法和药物制剂。本文的目的是回顾目前对Stargardt病的遗传学,分类和治疗的认识,同时强调需要进一步研究潜在的治疗途径。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Stargardt Disease
Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common. Each variant may have distinct clinical features, however, patients generally experience bilateral central vision loss and poor visual acuity ranging from 20/70 to 20/200. Diagnosis is often made through clinical presentation and may be assisted by fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), fundus autofluorescence (FAF) or electrophysiological assessment. Currently, there are multiple classification systems of Stargardt disease that include Fishman STGD classification system, groupings due to electroretinography (ERG) findings, and types based on FAF imaging. Though there are currently no clinically proven treatments for Stargardt disease, physicians often recommend patients avoid direct sunlight, smoking cigarettes, and excessive intake of vitamin A. Potential treatments currently under investigation include strategies using gene replacement therapy, stem cell therapy, and pharmacologic agents. The purpose of this paper is to review the current knowledge of the genetics, classifications, and treatments of Stargardt disease, while underscoring the need for further research in potential treatment routes.
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
自引率
0.00%
发文量
0
×
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