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Glaucoma

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

  • Han X*, Souzeau E*, Ong JS, An J, Siggs OM, Burdon KP, Best S, Goldberg I, Healey PR, Graham SL, Ruddle JB, Mills RA, Landers J, Galanopoulos A, White AJR, Casson R, Mackey DA, Hewitt AW, Gharahkhani P, Craig JE, MacGregor S. (2018) Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies. JAMA Ophthalmol. 137(1):28-35
  • MacGregor S, Ong JS, An J, Han X, Zhou T, Siggs OM, Law MH, Souzeau E, Sharma S, Lynn DJ, Beesley J, Sheldrick B, Mills RA, Landers J, Ruddle JB, Graham SL, Healey PR, White AJR, Casson RJ, Best S, Grigg JR, Goldberg I, Powell JE, Whiteman DC, Radford Smith GL, Martin NG, Montgomery GW, Burdon KP, Mackey DA*, Gharahkhani P*, Craig JE*, Hewitt AW*. (2018) Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nat Genet. 50(8):1067-71
  • 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

  • Siggs OM*, Souzeau E*, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE. (2019) Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma. JAMA Ophthalmol. In press
  • 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, 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:

  • 1154824 Translating molecular determinants of advanced glaucoma to personalise risk profiling in early disease
  • 1147571 Translation of glaucoma blindness genes to improve clinical practice
  • 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)
  • 1150144 Translating genetic determinants of glaucoma into better diagnosis and treatment
  • Funding provided through the Flinders Foundation Health Seed grant: Improving management of childhood glaucoma
  • Funding provided through the Flinders Foundation Health Seed grant:
  • Funding provided through The Ophthalmic Research Institute of Australia: AAV gene therapy for ganglion cell neuroprotection in glaucoma

 

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.