Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.
Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.
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DOI：
10.1167/tvst.7.4.6
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发表时间：
2018-07
影响因子：
3
通讯作者：
and the Foundation Fighting Blindness Scientific Advisory Board
中科院分区：
文献类型：
--
作者：
Duncan JL;Pierce EA;Laster AM;Daiger SP;Birch DG;Ash JD;Iannaccone A;Flannery JG;Sahel JA;Zack DJ;Zarbin MA;and the Foundation Fighting Blindness Scientific Advisory Board
遗传性视网膜变性（IRD）代表了一组不同的进行性视力衰弱疾病，可导致失明，其中对视网膜功能至关重要的基因突变导致进行性感光细胞死亡和相关的视力丧失。IRD是遗传异质性的，迄今已鉴定出超过260种疾病基因。[1]迄今为止，改变疾病进展速度的治疗和治愈方法的发展有限，临床试验报告了神经营养因子治疗和基因治疗的一些成功。2-11治疗成功的最好例子是针对RPE 65基因突变引起的IRD的基因增强疗法，该疗法最近获得了美国食品和药物管理局（FDA）的批准，这实际上代表了FDA批准的第一种用于任何遗传性疾病的基因疗法（GT）。4-9 IRD领域的最新发展促进了对视力丧失机制的理解，通过开发新的治疗方法创造了干预疾病过程的新机会。2013年，IRD专家的Delphi式聚会通过共识确定了推进IRD治疗工作的首要任务，包括系统基因分型的需要，改善视觉功能测试的标准化，制定更严格和广泛的数据收集协议，以及增加数据共享。12本文件概述了税务局领域的最新进展，并概述了具体的知识差距。这些知识差距带来了机遇-
Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually debilitating diseases that can lead to blindness in which mutations in genes that are critical to retinal function lead to progressive photoreceptor cell death and associated vision loss. IRDs are genetically heterogeneous, with over 260 disease genes identified to date. 1 The development of treatments and cures to modify the rate of disease progression has been limited to date, with some success of neurotrophic factor therapy and gene therapies reported from clinical trials. 2–11 The best example of treatment success is gene augmentation therapy for IRD caused by mutations in the RPE65 gene, which recently received US Food and Drug Administration (FDA) approval, which in fact represented the first FDA-approved gene therapy (GT) for any genetically inherited disease. 4–9 Recent developments in the IRD field have advanced understanding of the mechanisms responsible for vision loss, creating new opportunities to intervene in the course of disease by developing new therapeutic approaches. In 2013, a Delphi-style gathering of IRD experts led to the identification, by consensus, of top priorities to advance therapeutic efforts for IRDs, including the need for systematic genotyping, improved standardization of visual function testing, development of more rigorous and widespread data collection protocols, and increased data sharing. 12 This document summarizes more recent advances in the IRD field and outlines specific knowledge gaps. These knowledge gaps present oppor-
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影响因子：
4.2
作者：
Birch, David G.;Bennett, Lea D.;Duncan, Jacque L.;Weleber, Richard G.;Pennesi, Mark E.
通讯作者：
Pennesi, Mark E.
X连锁性视网膜炎的患者外部段层进展的光谱域光学相干断层扫描测量。
影响因子：
8.1
作者：
Birch, David G.;Locke, Kirsten G.;Wen, Yuquan;Locke, Kelly I.;Hoffman, Dennis R.;Hood, Donald C.
通讯作者：
Hood, Donald C.
影响因子：
5.9
作者：
Assawachananont, Juthaporn;Mandai, Michiko;Okamoto, Satoshi;Yamada, Chikako;Eiraku, Mototsugu;Yonemura, Shigenobu;Sasai, Yoshiki;Takahashi, Masayo
通讯作者：
Takahashi, Masayo
影响因子：
3.4
作者：
Berson, Eliot L.
通讯作者：
Berson, Eliot L.
影响因子：
1.9
作者：
Barrett JM;Berlinguer-Palmini R;Degenaar P
通讯作者：
Degenaar P