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Invited Commentary
April 30, 2020

Rhegmatogenous Retinal Detachment in the Age of Genomic Medicine

Author Affiliations
  • 1Section of Ophthalmology, School of Life Course Sciences and Medicine, King’s College London, London, United Kingdom
  • 2Department of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
JAMA Ophthalmol. 2020;138(6):678-679. doi:10.1001/jamaophthalmol.2020.1240

Rhegmatogenous retinal detachment (RRD) happens when a vitreous humor–filled gap forms between the neurosensory and the retinal pigment epithelium layers. Although the condition is relatively infrequent and has surgical repair success rates greater than 80%,1 the visual acuity outcomes are poor in half of cases, especially patients who present with a detached macula.2 Male sex, myopia, and cataract surgery are all risk factors disproportionally overrepresented among patients with RRD. Because of the difficulty assembling sufficiently well-powered prospective studies, which is particularly intense for low-frequency disorders such as RRD, quantifying how much risk is associated with the presence of each factor and establishing the nature of their association with retinal detachment remains elusive.

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    1 Comment for this article
    A Non-Myopic View of Recent Insights into Rhegmatogenous Retinal Detachment
    Veronique Vitart, PhD | MRC Human Genetics Unit, University of Edinburgh
    We read with interest the article (1) and associated commentary (2) on rhegmatogenous retinal detachment in the age of genomic medicine. Although not the focus of the commentary, nonetheless, the statements made on the two novel genome-wide significant retinal detachment (RD) loci are in our view misleading.
    Neither of the two independent genome-wide significant retinal detachment risk variants in the study discussed (1) show evidence of mediating their effects primarily by increasing myopia risk, a fact we had remarked upon in our analysis of the same dataset (3). No variant at the COL22A1 locus has
    so far been reported associated with any trait at a genome-wide significance threshold; the locus is not listed in any refractive error or myopia GWAS including the latest, very large-scale, refractive error GWAS performed by Hysi et al (4). The lead RD variants for the FAT3 locus have, intriguingly, been associated with heel-bone mineral density (5). FAT3 is newly listed as a refractive error locus (4) but the effects of the associated variants on myopia and RD risks appear to be opposite rather than concordant as expectation would be if the variants mediate RD risk through myopia. The myopia increasing reported allele at rs535888 is associated (and only at nominal level of significance) with decreased RD risk in our study; Similarly, the retinal detachment-increasing alleles at the lead RD variants, reported by us and Han et al, associate with decreased rather than increased risk of severe myopia in our UK Biobank data analysis (thereby defined as Spherical Equivalent Refraction of -6 Diopters or worse in averaged eye measures).

    The recent inroads into retinal detachment genetic predispositions suggest that the age of genomic medicine indeed offers many opportunities for better apportioning and evaluating those genetic risks.

    Danny Mitry (a), Aman Chandra (b) and Veronique Vitart (c)

    a. Department of Ophthalmology, Royal Free NHS Foundation Trust, NW3 2QG, London,UK
    b. Southend University Hospital NHS Foundation Trust
    c. MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU, Edinburgh, UK


    1. Han, X. et al. Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study. JAMA Ophthalmol (2020).

    2. Hysi, P.G. & Simcoe, M.J. Rhegmatogenous Retinal Detachment in the Age of Genomic Medicine. JAMA Ophthalmol (2020).

    3. Boutin, T.S. et al. Insights into the genetic basis of retinal detachment. Hum Mol Genet (2019).

    4. Hysi, P.G. et al. Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia. Nat Genet 52, 401-407 (2020).

    5. Kim, S.K. Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. PLoS One 13, e0200785 (2018).