Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry

E Souzeau; KP Burdon; A Dubowsky; S Grist; B Usher; JT Fitzgerald; A Crawford; AW Hewitt; I Goldberg; RA Mills; JB Ruddle; J Landers; DA Mackey; JE Craig

Journal article

Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry

E Souzeau, KP Burdon, A Dubowsky, S Grist, B Usher, JT Fitzgerald, A Crawford, AW Hewitt, I Goldberg, RA Mills, JB Ruddle, J Landers, DA Mackey, JE Craig

Ophthalmology | ELSEVIER SCIENCE INC | Published : 2013

DOI: 10.1016/j.ophtha.2012.11.029

Abstract

Objectives: To determine the proportion of all Myocilin coding mutations responsible for advanced primary open-angle glaucoma (POAG) in early-age-at-onset individuals and to investigate the prevalence of exon 3 Myocilin mutations in advanced POAG at any age at onset in a large Australasian cohort. Design: Cross-sectional study using a national disease registry. Participants: One thousand sixty individuals with advanced POAG (103 with age at onset of 40 years or younger) and 320 with nonadvanced POAG all recruited by the Australian and New Zealand Registry of Advanced Glaucoma. Methods: Participants were examined and referred by their eye practitioner, and Myocilin genetic testing was perform..

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University of Melbourne Researchers

Jonathan Ruddle Author

Grants

Funding Acknowledgements

Supported by the RANZCO Eye Foundation, Sydney, Australia; Glaucoma Australia, Sydney, Australia; the Center of Clinical Research Excellence scheme, Canberra, Australia; National Health and Medical Research Council, Canberra, Australia; Career Development Award (K. P. B.); and a National Health and Medical Research Council Practitioner Fellow (J.E.C.), Canberra, Australia. The funding organizations had no role in the design or conduct of this research.