Glaucoma research

Glaucoma is the second most prevalent cause of blindness world-wide. Find out more about our research into glaucoma, and use our glaucoma search filter to search for evidence-based research.

Research focus areas

Glaucoma registry

Predicting the genetic risk of glaucoma

Congenital glaucoma

Glaucoma search filters

The Australian and New Zealand Registry of Advanced Glaucoma

The Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) established by Flinders University’s Professor Jamie Craig, aims to provide the world’s largest collection of advanced glaucoma cases, along with clinical information and DNA, to ascertain new, genetic glaucoma risk profiles.

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

Funding provided through the National Health and Medical Research Council:

1147571 Translation of glaucoma blindness genes to improve clinical practice
1150144 Translating molecular determinants of advanced glaucoma to personalise risk profiling in early disease
1065433 Disease Registry based approaches to determining molecular risk factors for glaucoma blindness, and applying them in clinical practice.
1048037 Towards translation of glaucoma blindness genes into clinical practice: predicting Risk Of Glaucoma: Relevant SNPs with Strong Association (PROGRESSA) Study.

Featured publications

Marshall HN, Andrew NH, Hassall M, Qassim A, Souzeau E, Ridge B, Nguyen T, Fitzgerald J, Awadalla MS, Burdon KP, Healey PR, Agar A, Galanopoulos A, Hewitt AW, Graham SL, Landers J, Casson RJ, Craig JE. Macular GCIPL loss precedes peripapillary RNFL loss in glaucoma with lower intraocular pressure. Ophthalmology. 2019 Mar 22. pii: S0161-6420(18)32563-6. doi: 10.1016/j.ophtha.2019.03.016. [Epub ahead of print] PMID: 30910584
Awadalla MS, Fitzgerald J, Andrew NH, Zhou T, Marshall H, Qassim A, Hassall M, Casson RJ, Graham SL, Healey PR, Agar A, Galanopoulos A, Phipps S, Chappell A, Landers J, Craig JE. Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance. PLoS One. 2018 Dec 5;13(12):e0206684. doi: 10.1371/journal.pone.0206684. eCollection 2018. PMID: 30517101

ANZRAG registry

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.

Funding for this research is provided through the National Health and Medical Research Council:

1107098 High penetrance deleterious mutations in blinding glaucoma.
1032911 Translation of Genetic Eye Research (TOGER).
1031347 Functional analysis of recently identified novel glaucoma genes.

Featured publications

Han X, Qassim A, Craig et al., Multitrait analysis of glaucoma identifies new loci and enables effective polygenic risk score prediction of disease susceptibility, progression, treatment, and myocilin penetrance, Nature Genetics, accepted for publication, 31st October, 2019
Siggs OM, Souzeau E, Craig JE. Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation. Ophthalmic Genet. 2019 Feb;40(1):12-16. doi: 10.1080/13816810.2018.1561904. Epub 2019 Jan 2. PMID: 30600741
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.

Funding for this research is 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.

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. Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. JAMA Ophthalmol. 2019 Jan 17. doi: 10.1001/jamaophthalmol.2018.5646. [Epub ahead of print] PMID: 30653210
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.