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Population-Based Familial Aggregation Study

Roger C. W. Wolfs, MD, MSc; Caroline C. W. Klaver, MD, MSc; Raan S. Ramrattan, MD, MSc; Cornelia M. van Duijn, PhD; Albert Hofman, MD, PhD; Paulus T. V. M. de Jong, MD, PhD, FRCOphth

Arch Ophthalmol. 1998;116:1640-1645.

Objectives  To study familial aggregation of primary open-angle glaucoma in a general population and to determine the absolute and relative risks for first-degree relatives.

Methods  First-degree relatives of patients with glaucoma (n=48) and control subjects (n=155) from the population-based Rotterdam Study underwent a standardized examination, including perimetry.

Main Outcome Measures  Intraocular pressure; vertical cup-disc ratio; and the presence of glaucoma, defined as a visual field defect with a cup-disc ratio of 0.7 or higher or asymmetry of 0.3 or higher between both eyes.

Results  The prevalence of glaucoma was 10.4% in siblings of patients, 1.1% in offspring of patients, 0.7% in siblings of controls, and 0% in offspring of controls. Lifetime risk of elevated intraocular pressure in relatives of patients vs relatives of controls was 42.5% vs 6.7%, of enlarged cup-disc ratio was 62.2% vs 16.6%, and of glaucoma was 22.0% vs 2.3%, yielding a risk ratio for glaucoma of 9.2 (95% confidence interval=1.2-73.9). The population-attributable risk of glaucoma was 16.4%.

Conclusions  In a general population, relatives of patients with glaucoma have a strongly increased risk of glaucoma. Enlarged cup-disc ratio, not intraocular pressure, was the earliest and most prominent feature of familial aggregation. Further studies are needed to disentangle the genetic components of the increased familial risk.

From the Departments of Epidemiology and Biostatistics (Drs Wolfs, Klaver, Ramrattan, van Duijn, Hofman, and de Jong) and Ophthalmology (Drs Wolfs and Klaver), Erasmus University Medical School, Rotterdam, and The Netherlands Ophthalmic Research Institute (Dr de Jong) and the Department of Ophthalmology, Academic Medical Center (Dr de Jong), Amsterdam, the Netherlands.

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Arch Ophthalmol. 1998;116(12):1646-1651.
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