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Research focus areas

Predicting the genetic risk of glaucoma

Little is known about the genetics of glaucoma and a more thorough understanding of the biological pathways involved may lead to better risk prediction and treatment options.

Better identification of those people at high risk of glaucoma, through genetic screening, would result in an overall reduction of preventable blindness by identifying those at risk and treating the condition before serious sight loss has occurred.


Featured publications

  • Zhou T, Souzeau E, Siggs OM, et al. Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2017 Mar 1; 58(3):1537-1544. doi: 10.1167/iovs.16-21049.
  • Gharahkhani P*, Burdon KP*, Fogarty R, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014 Oct; 46(10):1120-5. doi: 10.1038/ng.3079. Epub 2014 Aug 31.
  • Souzeau E, Tram KH, Witney M, et al. Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals. Ophthalmology. 2017 Mar; 124(3):303-309. doi: 10.1016/j.ophtha.2016.11.011. Epub 2016 Dec 16.


Congenital glaucoma

A number of genetic variations have been identified - some by our researchers - that are associated with congenital forms of glaucoma. Further identification of these genetic variants will help in early detection and treatment of congenital glaucoma and counselling families about the risk of recurrence and reproductive options.


Featured publications

  • Souma T, Tompson SW, Thomson BR, et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6.
  • Souzeau E, Hayes M, Ruddle JB, et al. CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. Mol Vis. 2015 Feb 11; 21:160-4. eCollection 2015.
  • Souzeau E, Hayes M, Zhou T, et al. Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. JAMA Ophthalmol. 2015 Jul;133(7):826-33. doi: 10.1001/jamaophthalmol.2015.0980.


Funding provided through the National Health and Medical Research Council:

  • 1048037 Towards translation of glaucoma blindness genes into clinical practice: Predicting Risk Of Glaucoma: RElevant SNPs with Strong Association (PROGRESSA) Study
  • 1065433 Disease Registry based approaches to determining molecular risk factors for glaucoma blindness, and applying them in clinical practice
  • 1107098 High penetrance deleterious mutations in blinding glaucoma
  • 1023911 Translation of genetic eye research integrating education, counselling and testing with gene discovery and gene based therapies for eye disease. (Lead Institute: University of Western Australia)
  • 1132454 Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET) (Lead Institute: University of Western Australia)
  • 1116360 From discovery to therapy in genetic eye diseases (Lead Institute: University of Western Australia)
  • Funding provided through a Faculty of Medicine, Nursing and Health Sciences seeding grant: A coordinated approach to improving visual outcomes for families of individuals with glaucoma blindness. Partner organisation: Glaucoma Australia.


Glaucoma search filter

Evidence Based Eye Search

Glaucoma is the second most prevalent cause of blindness worldwide. The Flinders Centre for Ophthalmology, Eye and Vision Research engaged Flinders Filters to develop a Glaucoma Search Filter, supporting evidence based research and expanding the knowledge base.

Glaucoma topic searches

These topic searches have been combined with the glaucoma search filter and are focused on areas of interest to glaucoma.