The genetics and disease mechanisms of rhegmatogenous retinal detachment

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

doi:10.1016/j.preteyeres.2022.101158

The genetics and disease mechanisms of rhegmatogenous retinal detachment

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

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

25 Citations (Scopus)

261 Downloads (Pure)

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.

Original language	English
Article number	101158
Number of pages	28
Journal	Progress in Retinal and Eye Research
Volume	97
DOIs	https://doi.org/10.1016/j.preteyeres.2022.101158
Publication status	Published - Nov-2023

Keywords

Gene therapy
Monogenic disease
Multifactorial disease
Myopia
Preventive intervention
Retinal detachment
Rhegmatogenous retinal detachment

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@article{a8a5db58532e47569145312f521ba6af,

title = "The genetics and disease mechanisms of rhegmatogenous retinal detachment",

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.",

keywords = "Gene therapy, Monogenic disease, Multifactorial disease, Myopia, Preventive intervention, Retinal detachment, Rhegmatogenous retinal detachment",

author = "Govers, \{Birgit M.\} and \{van Huet\}, \{Ramon A.C.\} and Susanne Roosing and Sander Keijser and Los, \{Leonoor I.\} and \{den Hollander\}, \{Anneke I.\} and Klevering, \{B. Jeroen\}",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = nov,

doi = "10.1016/j.preteyeres.2022.101158",

language = "English",

volume = "97",

journal = "Progress in Retinal and Eye Research",

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AU - Govers, Birgit M.

AU - van Huet, Ramon A.C.

AU - Roosing, Susanne

AU - Keijser, Sander

AU - Los, Leonoor I.

AU - den Hollander, Anneke I.

AU - Klevering, B. Jeroen

PY - 2023/11

Y1 - 2023/11

N2 - 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.

AB - 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.

KW - Gene therapy

KW - Monogenic disease

KW - Multifactorial disease

KW - Myopia

KW - Preventive intervention

KW - Retinal detachment

KW - Rhegmatogenous retinal detachment

UR - https://www.scopus.com/pages/publications/85146018536

U2 - 10.1016/j.preteyeres.2022.101158

DO - 10.1016/j.preteyeres.2022.101158

M3 - Review article

C2 - 36621380

AN - SCOPUS:85146018536

SN - 1350-9462

VL - 97

JO - Progress in Retinal and Eye Research

JF - Progress in Retinal and Eye Research

M1 - 101158

ER -

The genetics and disease mechanisms of rhegmatogenous retinal detachment

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Keywords

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