PURPOSE.To estimate the heritability of peripheral refraction in Chinese children and adolescents. METHODS. The authors examined 72 monozygotic (MZ) twins and 48 dizygotic (DZ) twins aged 8 to 20 years from a population-based twin registry. Temporal and nasal peripheral refraction, each 40°from the visual axis, and axial refraction were measured using an autorefractor. Relative peripheral refractive error (RPRE) was defined as the peripheral refraction minus the axial refraction. Heritability was assessed by structural equation modeling after adjustment for age and sex. 1 Longitudinal and crosssectional epidemiologic studies have suggested that the prevalence of myopia exceeds 70% among teenagers living in urban areas in East Asia.2-4 In recent population-based studies among adult Chinese living in urban and rural settings, myopic retinopathy has been the second-leading cause of blindness after cataract. 5,6 Despite intensive research in recent decades, the etiology of myopia remains elusive. Although on-axis refraction (central refractive error) is the major determinant of central visual acuity, there is increasing evidence suggesting that peripheral defocus also plays an important role in the development of myopia, 7-12 although one study has reported contradictory results. 13 In keeping with this notion, previous studies have shown that subjects with relative hyperopic peripheral refraction are more likely to have a prolate posterior eye shape. 14 -16 By contrast, those with relative myopic peripheral refraction are more likely to have an oblate posterior eye shape. 14 -16 Interestingly, there appears to be ethnic variation in the distribution of peripheral refraction, with East Asians having a greater degree of relative peripheral hyperopia (more prolate ocular shape) than do persons of European descent with similar central refractive power. [17][18][19] It remains unclear whether this ethnic difference is attributable to inherited genetic susceptibilities or socioenvironmental differences. It is therefore important to understand whether peripheral refraction is genetically determined. Such information may shed light on the mechanisms underlying the development of myopia.Twin studies offer a unique opportunity to estimate the relative contribution of genetic and environmental effects to the development of complex traits and diseases. 20 In classic twin studies, it is assumed that monozygotic (MZ) twins share 100% of their genes, whereas dizygotic (DZ) twins share, on average, 50%. The heritability of a specific phenotype can be estimated by comparing the phenotypic concordance within MZ and DZ twin pairs. The purpose of this study was to estimate the distribution and heritability of peripheral refraction in young twins.
SUBJECTS, MATERIALS, AND METHODS
SubjectsSubjects were recruited from participants in the Guangzhou Twin Study, an ongoing prospective cohort study of 9709 twin pairs that began in 2006.21 Children older than 8 years of age who visited the Zhongshan Ophthalmic Center between