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(Investigative Ophthalmology and Visual Science. 2005;46:1588-1592.)
© 2005 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.04-0740
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Heritability of Refractive Error and Familial Aggregation of Myopia in an Elderly American Population

Robert Wojciechowski,1,2 Nathan Congdon,1,3 Heidi Bowie,3 Beatriz Munoz,3 Donna Gilbert,3 and Sheila K. West1,3

1From the Bloomberg School of Public Health, and the 3Dana Center for Preventive Ophthalmology, School of Medicine, Johns Hopkins University, Baltimore, Maryland; and the 2Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

PURPOSE. To determine the heritability of refractive error and the familial aggregation of myopia in an older population.

METHODS. Seven hundred fifty-nine siblings (mean age, 73.4 years) in 241 families were recruited from the Salisbury Eye Evaluation (SEE) Study in eastern Maryland. Refractive error was determined by noncycloplegic subjective refraction (if presenting distance visual acuity was ≤20/40) or lensometry (if best corrected visual acuity was >20/40 with spectacles). Participants were considered plano (refractive error of zero) if uncorrected visual acuity was >20/40. Preoperative refraction from medical records was used for pseudophakic subjects. Heritability of refractive error was calculated with multivariate linear regression and was estimated as twice the residual between-sibling correlation after adjusting for age, gender, and race. Logistic regression models were used to estimate the odds ratio (OR) of myopia, given a myopic sibling relative to having a nonmyopic sibling.

RESULTS. The estimated heritability of refractive error was 61% (95% confidence interval [CI]: 34%–88%) in this population. The age-, race-, and sex-adjusted ORs of myopia were 2.65 (95% CI: 1.67–4.19), 2.25 (95% CI: 1.31–3.87), 3.00 (95% CI: 1.56–5.79), and 2.98 (95% CI: 1.51–5.87) for myopia thresholds of –0.50, –1.00, –1.50, and –2.00 D, respectively. Neither race nor gender was significantly associated with an increased risk of myopia.

CONCLUSIONS. Refractive error and myopia are highly heritable in this elderly population.




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