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遗传性视网膜疾病的影像学诊断。

Imaging in inherited retinal disorders.

机构信息

Department of Ophthalmology, Istanbul Training and Research Hospital, Istanbul, Turkey.

Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

出版信息

Eur J Ophthalmol. 2021 Jul;31(4):1656-1676. doi: 10.1177/1120672121990578. Epub 2021 Feb 1.

Abstract

Inherited retinal diseases, which results from mutations in over 260 identified genes, affect more than 2 million people globally. The diseases mostly cause severe vision loss in young working population and have severe impact on social economic status of the population. Advances in retinal imaging techniques along with developments in gene identification and cell biology techniques have yielded to a better understanding of the genetic and biochemical mechanisms causing these diseases. Retinal imaging along with through ophthalmological examination is essential to make an accurate diagnosis, to decrease the burden of unneccessary anciliary tests and to select the potential patients that can get benefit from the gene treatment. The purpose of the review is to yield an update on inherited retinal diseases by highlighting microstructural changes in retina and to summarize the retinal changes detected by currently available multimodal imaging techniques.

摘要

遗传性视网膜疾病是由超过 260 个已确定的基因突变引起的,影响着全球超过 200 万人。这些疾病主要导致年轻劳动力人群视力严重丧失,并对人口的社会经济地位造成严重影响。视网膜成像技术的进步以及基因鉴定和细胞生物学技术的发展,使人们对导致这些疾病的遗传和生化机制有了更好的理解。视网膜成像以及眼科检查对于做出准确诊断、减少不必要辅助检查的负担以及选择可能从基因治疗中受益的潜在患者至关重要。本文综述的目的是强调视网膜的微观结构变化,更新遗传性视网膜疾病的相关知识,并总结目前可用的多模态成像技术检测到的视网膜变化。

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