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遗传性眼部异常的治疗前景和方式。

Prospects and modalities for the treatment of genetic ocular anomalies.

机构信息

Department of Ophthalmology and Visual Sciences, University of British Columbia, 2550 Willow Street, Vancouver, BC, V5Z 3N9, Canada.

出版信息

Hum Genet. 2019 Sep;138(8-9):1019-1026. doi: 10.1007/s00439-018-01968-5. Epub 2019 Jan 2.

Abstract

Over the last three decades, genetic studies have made great strides toward the identification of genes and genetic mechanisms underlying congenital disorders of the eye. However, despite the vast knowledge available this has not translated into treatments to prevent or repair the damage in the clinical setting. Recently, new research in technologies, such as tissue regeneration, next generation designer drugs, and genome editing, have become available for some genetic disorders that might be applicable to congenital ocular diseases in the near future. Here, we provide an overview of the emerging therapeutic modalities and the future prospects they hold for debilitating ocular defects.

摘要

在过去的三十年中,遗传研究在确定导致眼先天畸形的基因和遗传机制方面取得了重大进展。然而,尽管已经有了大量的知识,但这并没有转化为预防或修复临床损伤的治疗方法。最近,组织再生、下一代设计药物和基因组编辑等技术的新研究已经为一些遗传疾病提供了可能适用于先天性眼部疾病的治疗方法。在这里,我们提供了新兴治疗方法的概述及其对致盲性眼部缺陷的未来前景。

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