Green, CM and Kearns, LS and Wu, J and Barbour, JM and Wilkinson, RM and Ring, M and Craig, JE and Wong, TL and Hewitt, AW and Mackey, DA, How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania, Clinical and Experimental Ophthalmology, 35, (9) pp. 793-799. ISSN 1442-6404 (2007) [Refereed Article]
Purpose: To determine what proportion of primary open angle glaucoma (POAG) in Tasmania, Australia is familial.
Methods: Between 1994 and 1996 an audit of Tasmanian patients diagnosed with glaucoma was performed. Identified probands along with their family members were invited to participate. Family history of POAG was noted and pedigrees constructed. Each participant underwent a detailed examination, including visual acuity, intraocular pressure measurement, gonioscopy, optic disc assessment and visual field testing. Participants were classified as normal, suspect or POAG. Data from 467 participants in the Twins Eye Study in Tasmania (TEST) were used as a reference for the general population.
Results: Of 2062 participants examined, 1700 were classified as POAG. A total of 1014 participants (59.6%) belonged to families in which other members were affected (familial glaucoma). Six hundred and fifty-six of these 1014 familial cases (64.8%) had a first-degree relative affected. The number of affected members in the family groups varied from two to 29. Six hundred and eighty-eight participants had no known family history of POAG (sporadic glaucoma). There were significantly more POAG patients with a family history of POAG compared to the TEST population (χ2 = 161.81, P <0.0001), and for a person with POAG the odds ratio of having a positive family history was 4.1 (95% confidence interval: 3.2-5.2).
Conclusion: Approximately 60% of POAG in Tasmania is familial. This percentage is higher than most previous reports of familial glaucoma and emphasizes the importance of genetics in POAG, with major implications for screening and future research.
|Item Type:||Refereed Article|
|Keywords:||genetics, primary open angle glaucoma, screening|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|UTAS Author:||Green, CM (Ms Catherine Green)|
|UTAS Author:||Wu, J (Mr Jianhong Wu)|
|UTAS Author:||Wilkinson, RM (Ms Robin Wilkinson)|
|UTAS Author:||Ring, M (Mrs Maree Ring)|
|UTAS Author:||Craig, JE (Mr Jamie Craig)|
|UTAS Author:||Hewitt, AW (Professor Alex Hewitt)|
|UTAS Author:||Mackey, DA (Professor David Mackey)|
|Web of Science® Times Cited:||48|
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