The genetics and disease mechanisms of rhegmatogenous retinal detachment

IF 18.6 1区医学 Q1 OPHTHALMOLOGY Progress in Retinal and Eye Research Pub Date : 2023-11-01 DOI:10.1016/j.preteyeres.2022.101158

Birgit M. Govers , Ramon A.C. van Huet , Susanne Roosing , Sander Keijser , Leonoor I. Los , Anneke I. den Hollander , B. Jeroen Klevering

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引用次数: 1

Abstract

Rhegmatogenous retinal detachment (RRD) is a sight threatening condition that warrants immediate surgical intervention. To date, 29 genes have been associated with monogenic disorders involving RRD. In addition, RRD can occur as a multifactorial disease through a combined effect of multiple genetic variants and non-genetic risk factors. In this review, we provide a comprehensive overview of the spectrum of hereditary disorders involving RRD. We discuss genotype-phenotype correlations of these monogenic disorders, and describe genetic variants associated with RRD through multifactorial inheritance. Furthermore, we evaluate our current understanding of the molecular disease mechanisms of RRD-associated genetic variants on collagen proteins, proteoglycan versican, and the TGF-β pathway. Finally, we review the role of genetics in patient management and prevention of RRD. We provide recommendations for genetic testing and prophylaxis of at-risk patients, and hypothesize on novel therapeutic approaches beyond surgical intervention.

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孔源性视网膜脱离的遗传学和发病机制。

孔源性视网膜脱离（RRD）是一种威胁视力的疾病，需要立即进行手术干预。迄今为止，已有29个基因与涉及RRD的单基因疾病有关。此外，RRD可以作为一种多因素疾病，通过多种遗传变异和非遗传风险因素的综合作用而发生。在这篇综述中，我们对涉及RRD的遗传性疾病谱进行了全面的综述。我们讨论了这些单基因疾病的基因型-表型相关性，并通过多因素遗传描述了与RRD相关的遗传变异。此外，我们评估了我们目前对胶原蛋白、蛋白聚糖和TGF-β途径上RRD相关遗传变异的分子疾病机制的理解。最后，我们回顾了遗传学在RRD患者管理和预防中的作用。我们为高危患者的基因检测和预防提供了建议，并对手术干预之外的新治疗方法进行了假设。

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来源期刊

Progress in Retinal and Eye Research 医学-眼科学

CiteScore

34.10

自引率

5.10%

发文量

期刊介绍： Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.

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