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Current understanding of the genetic architecture of rhegmatogenous retinal detachment
Citation
Johnston, T and Chandra, A and Hewitt, AW, Current understanding of the genetic architecture of rhegmatogenous retinal detachment, Ophthalmic Genetics, 37, (2) pp. 121-129. ISSN 1381-6810 (2016) [Refereed Article]
Copyright Statement
Copyright Taylor & Francis
DOI: doi:10.3109/13816810.2015.1033557
Abstract
Rhegmatogenous retinal detachment (RRD) is a common and potentially blinding surgical retinal disease. While the precise molecular mechanisms leading to RRD are poorly understood, there is an increasing body of literature supporting the role of heritable factors in the pathogenesis of the condition. Much work has been undertaken investigating genes important in syndromic forms of RRD (e.g., Stickler, Wagner Syndrome, etc.) and research pertaining to genetic investigations of idiopathic or non-syndromic RRD has also recently been reported. To date, at least 12 genetic loci have been implicated in the development of syndromes of which RRD is a feature. A recent GWAS identified five loci implicated in the development of idiopathic RRD.This article provides an overview of the genetic mechanisms of both syndromic and idiopathic RRD. The genetics of predisposing conditions, such as myopia and lattice degeneration, are also discussed.
Item Details
Item Type: | Refereed Article |
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Keywords: | gene, genetics, idiopathic, non-syndromic, rhegmatogenous retinal detachment, syndromic |
Research Division: | Biomedical and Clinical Sciences |
Research Group: | Ophthalmology and optometry |
Research Field: | Ophthalmology |
Objective Division: | Health |
Objective Group: | Clinical health |
Objective Field: | Clinical health not elsewhere classified |
UTAS Author: | Hewitt, AW (Professor Alex Hewitt) |
ID Code: | 109422 |
Year Published: | 2016 |
Web of Science® Times Cited: | 8 |
Deposited By: | Menzies Institute for Medical Research |
Deposited On: | 2016-06-15 |
Last Modified: | 2018-05-04 |
Downloads: | 0 |
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