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. Life-time 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.
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. Life-time 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.
Authors: Jac Charlesworth; Patricia L Kramer; Tom Dyer; Victor Diego; John R Samples; Jamie E Craig; David A Mackey; Alex W Hewitt; John Blangero; Mary K Wirtz Journal: Invest Ophthalmol Vis Sci Date: 2010-03-17 Impact factor: 4.799
Authors: Siiri N Bennett; Neil Caporaso; Annette L Fitzpatrick; Arpana Agrawal; Kathleen Barnes; Heather A Boyd; Marilyn C Cornelis; Nadia N Hansel; Gerardo Heiss; John A Heit; Jae Hee Kang; Steven J Kittner; Peter Kraft; William Lowe; Mary L Marazita; Kristine R Monroe; Louis R Pasquale; Erin M Ramos; Rob M van Dam; Jenna Udren; Kayleen Williams Journal: Genet Epidemiol Date: 2011-01-31 Impact factor: 2.135
Authors: V C T Sung; J M Koppens; S A Vernon; P Pawson; M Rubinstein; A J King; C L Tattersall Journal: Br J Ophthalmol Date: 2006-01 Impact factor: 4.638
Authors: Jane Z Kuo; Linda M Zangwill; Felipe A Medeiros; Jeffery M Liebmann; Christopher A Girkin; Na'ama Hammel; Jerome I Rotter; Robert N Weinreb Journal: Am J Ophthalmol Date: 2015-04-04 Impact factor: 5.258