The genetics and disease mechanisms of rhegmatogenous retinal detachment

被引：15

作者：

Govers, Birgit M. ^{[1
,3
]}

van Huet, Ramon A. C. ^{[1
]}

Roosing, Susanne ^{[2
,3
]}

Keijser, Sander ^{[1
]}

Los, Leonoor I. ^{[4
]}

den Hollander, Anneke I. ^{[1
,5
]}

Klevering, B. Jeroen ^{[1
,6
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Med Ctr, Nijmegen, Netherlands

[4] Univ Med Ctr Groningen, Dept Ophthalmol, Groningen, Netherlands

[5] Genom Res Ctr, AbbVie, Cambridge, MA USA

[6] Radboud Univ Med Ctr Radboudumc, Dept Ophthalmol, Geert Grooteplein Zuid 10, NL-6525 GA Nijmegen, Netherlands

来源：

PROGRESS IN RETINAL AND EYE RESEARCH | 2023年 / 97卷

关键词：

Rhegmatogenous retinal detachment; Retinal detachment; Monogenic disease; Multifactorial disease; Myopia; Preventive intervention; Gene therapy; POSTERIOR VITREOUS DETACHMENT; SNOWFLAKE VITREORETINAL DEGENERATION; RECESSIVE STICKLER SYNDROME; DOMINANT COL11A1 MUTATION; EHLERS-DANLOS-SYNDROME; SPLICE-SITE MUTATION; COLLAGEN TYPE-II; CLINICAL-FEATURES; EROSIVE VITREORETINOPATHY; PROPHYLACTIC TREATMENT;

D O I：

10.1016/j.preteyeres.2022.101158

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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-beta 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.

引用

页数：28

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