Purpose-To investigate the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) in an older well-defined population.
Design-Family-based cohort study.Participants-Through the population-based Salisbury Eye Evaluation study, we recruited 726 siblings (mean age, 74.7 years) in 284 sibships.Methods-Intraocular pressure and CDR were measured bilaterally for all participants. The presence or absence of glaucoma was determined by a glacuoma specialist for all probands on the basis of visual field, optic nerve appearance, and history. The heritability of IOP was calculated as twice the residual between-sibling correlation of IOP using linear regression and generalized estimating equations after adjusting for age, gender, mean arterial pressure, race, self-reported diabetes status, and history of systemic steroid use. The heritability of CDR was calculated using the same model and adjustments as above, while also adjusting for IOP.Main Outcome Measures-Heritability and determinants of IOP and CDR, and impact of siblings' glaucoma status on IOP and CDR.Results-We estimated the heritability to be 0.29 (95% confidence interval [CI], 0.12-0.46) for IOP and 0.56 (95% CI, for CDR in this population. Mean IOP in siblings of glaucomatous probands was statistically significantly higher than in siblings of normal probands (mean difference, 1.02 mmHg; P = 0.017). The mean CDR in siblings of glaucomatous probands was 0.07 (or 19%) larger than in siblings of glaucoma suspect referrals (P = 0.045) and siblings of normal probands (P = 0.004).Conclusions-In this elderly population, we found CDR to be highly heritable and IOP to be moderately heritable. On average, siblings of glaucoma patients had higher IOPs and larger CDRs than siblings of nonglaucomatous probands.Primary open-angle glaucoma (POAG) is the second most common cause of blindness in the world 1 and affects approximately 2.2 million Americans. 2 Although the diagnosis of POAG centers on the characteristic excavation and atrophy of the optic nerve head and functional deficit measured by visual field (VF) change, 3 the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) have not been studied extensively thus far, despite the wellestablished role of heredity in POAG. In this study, we estimate the heritability of IOP and CDR from a cohort of sibships recruited through the Salisbury Eye Evaluation study. In addition, we also report the distribution of IOP and CDR among siblings of glaucomatous probands versus siblings of normal probands.
Materials and Methods
Subjects and General DesignBetween 1993 and 1995, a random sample of potential participants (ages 65 to 84 years) was chosen from the Health Care Financing Administration Medicare database and recruited from Salisbury, located on the Eastern Shore of Maryland, to engage in the population-based Salisbury Eye Evaluation study. 28 The cohort was invited for a follow-up examination including VF testing, optic nerve head imaging, and IOP measurement. All subjects with abnormal scr...