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Alison P. Klein, PhD, MHS; Bhoom Suktitipat, MD; Priya Duggal, PhD, MPH; Kristine E. Lee, MS; Ronald Klein, MD, MPH; Joan E. Bailey-Wilson, PhD; Barbara E. K. Klein, MD, MPH

Arch Ophthalmol. 2009;127(5):649-655.

Objective  To examine genetic influences for quantitative refraction. Spherical equivalent and its related binary traits of myopia and hyperopia are highly correlated within families. Many linkage regions have been reported for myopia, high myopia, and quantitative refraction. However, the measured phenotype of spherical equivalent is in large part dictated by the relationship between the underlying optical components of axial length, corneal curvature, and anterior chamber depth.

Methods  Using data from the fourth visit of the Beaver Dam Eye Study, we conducted familial correlation and heritability analysis of quantitative spherical equivalent, axial length, anterior chamber depth, and corneal curvature using data from 715 individuals in 189 pedigrees.

Results  Overall, every trait was highly heritable. Heritability estimates were 0.58 (SE 0.13) for spherical equivalent after adjustment for age, education, and nuclear sclerosis; 0.95 (SE 0.11) for corneal curvature after adjustment for height; 0.67 (SE 0.14) for axial length after adjustment for height and education; and 0.78 (SE 0.14) for anterior chamber depth after adjustment for age, education, height, and nuclear sclerosis.

Conclusion  Refraction and the underlying traits of axial length, corneal curvature, and anterior chamber depth are highly heritable. Genetic analysis of these traits may provide greater insight into the development of refractive errors.

Author Affiliations: Departments of Oncology and Pathology, Johns Hopkins School of Medicine (Dr A. P. Klein), Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health (Drs A. P. Klein and Suktitipat), and Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health (Drs Duggal and Bailey-Wilson), Baltimore, Maryland; Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand (Dr Suktitipat); and Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison (Ms Lee and Drs R. Klein and B. E. K. Klein).

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