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Current understanding of the genetic architecture of rhegmatogenous retinal detachment
journal contributionposted on 2023-05-18, 19:59 authored by Johnston, T, Chandra, A, Alexander HewittAlexander Hewitt
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.
Publication titleOphthalmic Genetics
Department/SchoolMenzies Institute for Medical Research
PublisherTaylor & Francis Inc.
Place of publicationUnited States
Rights statementCopyright Taylor & Francis