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The genetics and disease mechanisms of rhegmatogenous retinal detachment.
- Source :
-
Progress in retinal and eye research [Prog Retin Eye Res] 2023 Nov; Vol. 97, pp. 101158. Date of Electronic Publication: 2023 Jan 06. - Publication Year :
- 2023
-
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.<br /> (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Subjects :
- Humans
Visual Acuity
Genetic Association Studies
Retinal Detachment genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-1635
- Volume :
- 97
- Database :
- MEDLINE
- Journal :
- Progress in retinal and eye research
- Publication Type :
- Academic Journal
- Accession number :
- 36621380
- Full Text :
- https://doi.org/10.1016/j.preteyeres.2022.101158