Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment

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.

• gene
• genetics
• idiopathic
• non-syndromic
• rhegmatogenous retinal detachment
• syndromic

DECLARATION OF INTEREST

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

NOTE

Notes

1. Systematic literature searches were conducted on the Medline, PubMed, OMIM, EMBASE, ISI Web of Science and Scopus databases. Search terms included (combinations of): “rhegmatogenous retinal detachment”, genetics, single nucleotide polymorphism, gene, risk, primary, idiopathic, non-syndromic, myopia, “lattice degeneration.” Both original research and review papers were included. No date limitations or language exclusions were applied to the search. Articles primarily discussing surgical intervention and outcomes for RRD were excluded, as were articles specifically investigating the genetics of proliferative vitreoretinopathy (PVR). Titles and abstracts of articles were used to select relevant publications, with references lists examined to identify further articles.