Abstract

The purpose of the study is to evaluate the heritability of inner retinal layer (IRL) and outer retinal layer (ORL) thicknesses in the healthy Korean population. This was a cross-sectional, twin and family study. We included 374 Korean adults with healthy eyes from 89 families. IRL thickness (from the internal limiting membrane to the external limiting membrane) and ORL thickness (from the external limiting membrane to the outer border of the retinal pigment epithelium layer) were measured in the nine macular subfields as defined by the Early Treatment of Diabetic Retinopathy Study using optical coherence tomography. The heritability on IRL and ORL thicknesses were investigated using a variance decomposition model. The heritability of IRL thickness was 0.87, 0.58, 0.85, 0.89, and 0.74 for the central, inner superior, inner inferior, inner temporal, inner nasal subfields, respectively; and 0.62, 0.83, 0.62, and 0.60 for the outer superior, outer inferior, outer temporal, outer nasal subfields, respectively. The heritability of ORL thickness was 0.56, 0.75, 0.66, 0.72, and 0.56 for the central, inner superior, inner inferior, inner temporal, inner nasal subfields, respectively; and 0.64, 0.63, 0.73, 0.54 for the outer superior, outer inferior, outer temporal, and outer nasal subfields, respectively. The heritability estimates of IRL thickness and ORL thickness ranged from moderate to high. The IRL thickness at the central, inner temporal, and inner inferior subfields had particularly high heritability.

Highlights

  • The purpose of the study is to evaluate the heritability of inner retinal layer (IRL) and outer retinal layer (ORL) thicknesses in the healthy Korean population

  • Using these technological advances in the present study, we investigated the contribution of genetics to the thickness of the IRL and ORL in detail, by utilizing the data of a population-based twin and family study in South Korea

  • Heritability is a proportion of individual genetic variance that accounts for total phenotypic variance, and twin studies or family studies can offer information about heritability by separating the genetic and environmental components in phenotypic variances[19,20]

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Summary

Introduction

The purpose of the study is to evaluate the heritability of inner retinal layer (IRL) and outer retinal layer (ORL) thicknesses in the healthy Korean population. This was a cross-sectional, twin and family study. Layer by layer segmentation performed automatically by the software incorporated into SD-OCT devices provides objective measures of each retinal layer compared to what was available earlier[18] Using these technological advances in the present study, we investigated the contribution of genetics to the thickness of the IRL and ORL in detail, by utilizing the data of a population-based twin and family study in South Korea

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