Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study.
- Authors
- Wolfs, R C; Klaver, C C; Ramrattan, R S; van Duijn, C M; Hofman, A; de Jong, P T
- Year
- 1998
- Journal
- Archives of ophthalmology (Chicago, Ill. : 1960)
- PMID
- 9869795
- DOI
- 10.1001/archopht.116.12.1640
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.
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| Title | Year | PMID |
|---|---|---|
| Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. | 2011 | 21284036 |
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| The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness. | Charlesworth J et al. | — | 2010 | → |
| Using the Utah Population Database to assess familial risk of primary open angle glaucoma. | Wang X et al. | — | 2010 | → |
| Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. | Jiao X et al. | — | 2009 | → |
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| The 'I' in personalized genetics: 2008 Ian Constable lecture. | Mackey DA | — | 2009 | → |
| Accuracy of the ICare rebound tonometer in glaucomatous eyes with topical ocular hypotensive medication. | Diaz A et al. | — | 2008 | → |
| Cost-effectiveness of early detection and treatment of ocular hypertension and primary open-angle glaucoma by the ophthalmologist. | Peeters A et al. | — | 2008 | → |
| Gillies lecture: dissecting glaucoma: understanding the molecular risk factors. | Mackey DA | — | 2008 | → |
| GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. | Anderson MG et al. | — | 2008 | → |
| Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. | Aung T et al. | — | 2008 | → |
| Pharmacological management of primary open-angle glaucoma: second-line options and beyond. | Webers CA et al. | — | 2008 | → |
| Plasminogen activator inhibitor-1 4G/5G gene polymorphism and primary open-angle glaucoma. | Mossböck G et al. | — | 2008 | → |
| Prevalence of open angle glaucoma in accompanying first degree relatives of patients with glaucoma. | Vegini F et al. | — | 2008 | → |
| Risk factors for first presentation of glaucoma with significant visual field loss. | Deva NC et al. | — | 2008 | → |
| Risk factors for incident open-angle glaucoma: the Barbados Eye Studies. | Leske MC et al. | — | 2008 | → |
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| Sociodemographic, family history, and lifestyle risk factors for open-angle glaucoma and ocular hypertension. The Los Angeles Latino Eye Study. | Doshi V et al. | — | 2008 | → |
| A Canadian glaucoma strategy. | LeBlanc RP et al. | — | 2007 | → |
| Attributes of female reproductive aging and their relation to primary open-angle glaucoma: a prospective study. | Pasquale LR et al. | — | 2007 | → |
| [Blood groups and open-angle glaucoma in Tunisia]. | Jeddi Blouza A et al. | — | 2007 | → |
| Evolving global risk assessment of ocular hypertension to glaucoma. | Fechtner RD et al. | — | 2007 | → |
| Examination of first-degree relatives of patients with glaucoma: a randomized trial of strategies to increase use in an eye hospital in Africa. | Munachonga EM et al. | — | 2007 | → |
| Glaucoma: a review of adjunctive therapy and new management strategies. | Whitson JT | — | 2007 | → |
| How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania. | Green CM et al. | — | 2007 | → |
| Issues in screening for glaucoma. | Friedman DS | — | 2007 | → |
| Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India. | Rose R et al. | — | 2007 | → |
| Open-angle glaucoma -- an epidemiologic overview. | Leske MC | — | 2007 | → |
| Relationship of cerebral blood flow and central visual function in primary open-angle glaucoma. | Harris A et al. | — | 2007 | → |
| Risk factors and open-angle glaucoma: classification and application. | Boland MV et al. | — | 2007 | → |
| Risk factors for primary open-angle glaucoma in a Burmese population: the Meiktila Eye Study. | Casson RJ et al. | — | 2007 | → |
| Self-reported glaucoma in Canada: findings from population-based surveys, 1994-2003. | Perruccio AV et al. | — | 2007 | → |
| Systemic antihypertensive medication and incident open-angle glaucoma. | Müskens RP et al. | — | 2007 | → |
| Targeting relatives of patients with primary open angle glaucoma: the help the family glaucoma project. | Okeke CN et al. | — | 2007 | → |
| The Rotterdam Study: objectives and design update. | Hofman A et al. | — | 2007 | → |
| Complex genetics of complex traits: the case of primary open-angle glaucoma. | Hewitt AW et al. | — | 2006 | → |
| Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family. | Charlesworth JC et al. | — | 2006 | → |
| Gene mapping for primary open angle glaucoma. | Fan BJ et al. | — | 2006 | → |
| Glaucoma screening: current trends, economic issues, technology, and challenges. | Nduaguba C et al. | — | 2006 | → |
| Glaucoma screening during regular optician visits: can the population at risk of developing glaucoma be reached? | Stoutenbeek R et al. | — | 2006 | → |
| Longitudinal glaucoma screening for siblings of patients with primary open angle glaucoma: the Nottingham Family Glaucoma Screening Study. | Sung VC et al. | — | 2006 | → |
| Screening for prevention of optic nerve damage due to chronic open angle glaucoma. | Hatt S et al. | — | 2006 | → |
| TNF-alpha promoter polymorphisms and primary open-angle glaucoma. | Mossböck G et al. | — | 2006 | → |
| Assessment of nerve fiber layer thickness before and after laser in situ keratomileusis using scanning laser polarimetry with variable corneal compensation. | Halkiadakis I et al. | — | 2005 | → |
| Associations between the deletion polymorphism of the angiotensin 1-converting enzyme gene and ocular signs of primary open-angle glaucoma. | Bunce C et al. | — | 2005 | → |
| [Chronic open angle glaucoma]. | González de la Rosa M | — | 2005 | → |
| Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. | Chang TC et al. | — | 2005 | → |
| May glutathione S-transferase M1 positive genotype afford protection against primary open-angle glaucoma? | Yildirim O et al. | — | 2005 | → |
| New paradigms in the mechanisms and management of glaucoma. | Quigley HA | — | 2005 | → |
| Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. | Puska P et al. | — | 2005 | → |
| An evidence-based assessment of risk factors for the progression of ocular hypertension and glaucoma. | Friedman DS et al. | — | 2004 | → |
| Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family. | Healey DL et al. | — | 2004 | → |
| Detection of undiagnosed glaucoma by eye health professionals. | Wong EY et al. | — | 2004 | → |
| Factors associated with optic disc hemorrhages in glaucoma. | Soares AS et al. | — | 2004 | → |
| Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. | Sripriya S et al. | — | 2004 | → |
| Molecular genetic basis of primary inherited optic neuropathies. | Votruba M | — | 2004 | → |
| Primary open-angle glaucoma. | Weinreb RN et al. | — | 2004 | → |
| Analysis of the Glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR--no evidence of association to glaucoma. | Jansson M et al. | — | 2003 | → |
| A review of primary hereditary optic neuropathies. | Votruba M et al. | — | 2003 | → |
| Asian Americans: glaucoma. | Law SK | — | 2003 | → |
| Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. | Aung T et al. | — | 2003 | → |
| Primary open-angle glaucoma in blacks: a review. | Racette L et al. | — | 2003 | → |
| The Finnish evidence-based guideline for open-angle glaucoma. | Tuulonen A et al. | — | 2003 | → |
| Glaucoma: our role in reducing the burden of blindness. | Johnson LN | — | 2002 | → |
| Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. | Cobb CJ et al. | — | 2002 | → |
| Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. | Kitsos G et al. | — | 2001 | → |
| Patterns of open-angle glaucoma in the Barbados Family Study. | Leske MC et al. | — | 2001 | → |
| Antiglaucoma medications: a review of safety and tolerability issues related to their use. | Schuman JS | — | 2000 | → |
| Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. | Lehmann OJ et al. | — | 2000 | → |
| Heredity in primary open-angle glaucoma. | Budde WM | — | 2000 | → |
| The birth of ocular pharmacology in the 20th century. | Williams PB et al. | — | 2000 | → |
| Corticosteroids and glaucoma risk. | Tripathi RC et al. | — | 1999 | → |
| Glaucoma. | Coleman AL | — | 1999 | → |
| Inhaled corticosteroids, family history, and risk of glaucoma. | Mitchell P et al. | — | 1999 | → |