Johnston Timothy, Chandra Aman, Hewitt Alex W
a Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital , Melbourne , Victoria , Australia and.
b School of Medicine, Menzies Research Institute Tasmania, University of Tasmania , Hobart , Tasmania , Australia.
Ophthalmic Genet. 2016 Jun;37(2):121-9. doi: 10.3109/13816810.2015.1033557. Epub 2016 Jan 12.
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.
孔源性视网膜脱离（RRD）是一种常见的、有潜在致盲风险的视网膜手术疾病。虽然导致RRD的确切分子机制尚不清楚，但越来越多的文献支持遗传因素在该疾病发病机制中的作用。人们已经开展了大量工作来研究在综合征性RRD（如Stickler综合征、瓦格纳综合征等）中起重要作用的基因，并且最近也有关于特发性或非综合征性RRD基因研究的报道。迄今为止，至少有12个基因位点与以RRD为特征的综合征的发生有关。最近一项全基因组关联研究（GWAS）确定了五个与特发性RRD发生有关的基因位点。本文概述了综合征性和特发性RRD的遗传机制。还讨论了诸如近视和格子样变性等易感疾病的遗传学。
