The Genetic Architecture of Non-Syndromic Rhegmatogenous Retinal Detachment

Genes (Basel). 2022 Sep 19;13(9):1675. doi: 10.3390/genes13091675.

Abstract

Rhegmatogenous retinal detachment (RRD) is the most common form of retinal detachment (RD), affecting 1 in 10,000 patients per year. The condition has significant ocular morbidity, with a sizeable proportion of patients obtaining poor visual outcomes. Despite this, the genetics underpinning Idiopathic Retinal Detachment (IRD) remain poorly understood; this is likely due to small sample sizes in relevant studies. The majority of research pertains to the well-characterised Mende lian syndromes, such as Sticklers and Wagners, associated with RRD. Nevertheless, in recent years, there has been an increasing body of literature identifying the common genetic mutations and mechanisms associated with IRD. Several recent Genomic Wide Association Studies (GWAS) studies have identified a number of genetic loci related to the development of IRD. Our review aims to provide an up-to-date summary of the significant genetic mechanisms and associations of Idiopathic RRD.

Keywords: idiopathic retinal detachment; non-familial retinal detachment; non-syndromic retinal detachment; rhegmatogenous retinal detachment.

Publication types

  • Review

MeSH terms

  • Genetic Loci
  • Genome-Wide Association Study
  • Humans
  • Retinal Detachment* / genetics
  • Retrospective Studies

Grants and funding

There was no funding sought or obtained for this research.