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How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania

Authors

  • Catherine M Green FRANZCO MMedsc,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
    2. Royal Victorian Eye and Ear Hospital,
    3. Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, and
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  • Lisa S Kearns BOrth,

    1. Royal Victorian Eye and Ear Hospital,
    2. Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, and
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  • Johnny Wu MBBS,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
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  • Julie M Barbour DipOrth,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
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  • Robyn M Wilkinson BOrthop,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
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  • Maree A Ring,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
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  • Jamie E Craig DPhil FRANZCO,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
    2. Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia
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  • Tiffany L Wong BOrth,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
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  • Alex W Hewitt MBBS,

    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
    2. Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia
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  • David A Mackey MD FRANZCO

    Corresponding author
    1. Ophthalmology, Royal Hobart Hospital, Menzies Research Institute, University of Tasmania, Hobart, Tasmania,
    2. Royal Victorian Eye and Ear Hospital,
    3. Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Victoria, and
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Associate Professor David Mackey, Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, 32 Gisborne Street, East Melbourne, Vic. 3002, Australia. Email: d.mackey@utas.edu.au

Abstract

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.

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