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Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment

Citation

Souzeau, E and Goldberg, I and Healey, PR and Mills, RAD and Landers, J and Graham, SL and Grigg, JRB and Usher, B and Straga, T and Crawford, A and Casson, RJ and Morgan, WH and Ruddle, JB and Coote, MA and White, A and Stewart, J and Hewitt, AW and Mackey, DA and Burdon, KP and Craig, JE, Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment, Clinical and Experimental Ophthalmology, 40, (6) pp. 569-575. ISSN 1442-6404 (2012) [Refereed Article]


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Copyright Statement

Copyright 2012 Royal Australian and New Zealand College of Ophthalmologists

DOI: doi:10.1111/j.1442-9071.2011.02742.x

Abstract

Background: Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play a major role in the pathogenesis of the condition, and therefore, genetic testing to identify asymptomatic at-risk individuals is a promising strategy to reduce the prevalence of glaucoma blindness. Furthermore, unravelling genetic risk factors for glaucoma would also allow a better understanding of the pathogenesis of the condition and the development of new treatments. Design: The Australian and New Zealand Registry of Advanced Glaucoma is a prospective study that aims to develop a large cohort of glaucoma cases with severe visual field loss to identify novel genetic risk factors for glaucoma blindness. Methods: Clinical information and blood are collected from participants after referral by eye practitioners. Samples are collected across Australia and New Zealand using postage kits. Participants: Our registry has recruited just over 2000 participants with advanced glaucoma, as well as secondary and developmental glaucomas. Results: A positive family history of glaucoma is present in more than half of the advanced glaucoma cases and the age at diagnosis is significantly younger for participants with affected relatives, which reinforces the involvement of genetic factors in glaucoma. Conclusions: With the collection of glaucoma cases recruited so far, our registry aims to identify novel glaucoma genetic risk factors to establish risk profiling of the population and protocols for genetic testing.

Item Details

Item Type:Refereed Article
Keywords:Genetics; Glaucoma; Open angle glaucoma
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Hewitt, AW (Dr Alex Hewitt)
Author:Mackey, DA (Professor David Mackey)
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:90639
Year Published:2012
Web of Science® Times Cited:23
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-15
Last Modified:2017-11-06
Downloads:0

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