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Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study

Jarrar, ZA; Ansari, AS; Williams, KM; Wong, DS; Hysi, PG; Mahroo, OA; Hammond, CJ; (2023) Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study. Investigative Ophthalmology & Visual Science , 64 (10) , Article 9. 10.1167/iovs.64.10.9. Green open access

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Abstract

PURPOSE: The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the prevalence case wise concordance between monozygotic and dizygotic twin pairs, and heritability of common VMI abnormalities, including epiretinal membrane (ERM), posterior vitreous detachment (PVD), vitreomacular adhesion (VMA), vitreomacular traction (VMT), lamellar macular holes (LMHs), and full-thickness macular holes (FTMHs). METHODS: This is a single-center, cross-sectional classical twin study of 3406 TwinsUK participants over the age of 40 years who underwent spectral domain macular optical coherence tomography (SD-OCT) scans which were graded for signs of VMI abnormalities. Case wise concordance was calculated and the heritability of each VMI abnormality was estimated using OpenMx structural equation modeling. RESULTS: In this population (mean age = 62.0 years [SD = 10.4 years], range = 40–89 years) the overall prevalence of ERM was 15.6% (95% confidence interval [CI] = 14.4–16.9) and increased with age, posterior vitreous detachment affected 21.3% (20.0–22.7), and VMA was diagnosed in 11.8% (10.8–13.0). Monozygotic twins were more concordant for all traits than dizygotic twins, and age, spherical equivalent refraction (SER), and lens status-adjusted heritability was estimated at 38.9% (95% CI = 33.6–52.8) for ERM, 53.2% (95% CI = 41.8–63.2) for PVD, and 48.1% (95% CI = 33.6–58) for VMA. CONCLUSIONS: Common VMI abnormalities are heritable and therefore have an underlying genetic component. Given the sight-threatening potential of VMI abnormalities, further genetic studies, such as genomewide association studies, would be useful to identify genes and pathways implicated in their pathogenesis.

Type: Article
Title: Prevalence, Concordance, and Heritability of Vitreomacular Interface Abnormalities in a Twin Study
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.64.10.9
Publisher version: https://doi.org/10.1167/iovs.64.10.9
Language: English
Additional information: © 2023 The Authors. This work is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10174948
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