角膜营养不良
医学
眼科
遗传增强
基因检测
基因
遗传学
生物
角膜
内科学
作者
Jayne S. Weiss,Colin E. Willoughby,Víctor Abad–Morales,Joni A. Turunen,Walter Lisch
出处
期刊:Cornea
[Ovid Technologies (Wolters Kluwer)]
日期:2022-07-04
卷期号:41 (11): 1337-1344
标识
DOI:10.1097/ico.0000000000002857
摘要
One major purpose of the IC3D Corneal Dystrophy Nomenclature Revision was to include genetic information with a goal of facilitating investigation into the pathogenesis, treatment, and perhaps even prevention of the corneal dystrophies, an ambitious goal. Over a decade has passed since the first publication of the IC3D Corneal Dystrophy Nomenclature Revision. Gene therapy is available for an early-onset form of inherited retinal degeneration called Leber congenital amaurosis, but not yet for corneal degenerations. We review the current state of affairs regarding our original ambitious goal. We discuss genetic testing, gene therapy [RNA interference (RNAi) and genome editing], and ocular delivery of corneal gene therapy for the corneal dystrophies. Why have gene therapy techniques not yet been introduced for the corneal dystrophies?
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