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Current understanding of the genetic architecture of rhegmatogenous retinal detachment


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]

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DOI: doi:10.3109/13816810.2015.1033557


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
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:10
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-06-15
Last Modified:2022-08-25

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