Genetics of Glaucoma Study


Our aim is to find new genes for glaucoma, and develop risk prediction tools that use genetic data to identify people at high risk of developing this disease.

Glaucoma is a leading cause of blindness worldwide. Identifying glaucoma risk genes will help us identify the people at highest risk of developing glaucoma, enabling more efficient disease screening.

Glaucoma is typically treatable if diagnosed in time, so ultimately we hope this work will help prevent irreversible blindness.

Participation involves 

  • Online survey
  • Providing a saliva sample (at no cost to you)

Eligibility criteria

We are seeking people aged 18 years and above who have been:

  • diagnosed with glaucoma by an ophthalmologist or optometrist,
  • have been prescribed a glaucoma medication, or
  • have family history of glaucoma.

Description of the Study

Glaucoma is an eye disease where vision is lost due to damage to the optic nerve. It affects approximately 300 000 Australians and generally, there are no symptoms or early warning signs. 

It is the leading cause of irreversible blindness worldwide. Glaucoma is an age-related disease; a person’s chance of developing glaucoma significantly increases after the age of 50. Alarmingly, 1 in 2 sufferers do not know they have the disease. Loss of sight is usually gradual, where a considerable amount of peripheral vision may be lost before the person is aware of any problem.

But there is hope: glaucoma blindness is preventable in most cases if diagnosed in the early stages. Giving people with a high risk of developing glaucoma an early warning, allowing them to take preventative measures, could be as easy as providing a saliva sample to complete the predictive test.

Through this genetic study, researchers aim to identify glaucoma risk genes and to develop a genetic risk prediction tool to identify people at high risk of developing glaucoma. As well as improving screening, identifying glaucoma risk genes will likely help us to understand the biological basis of the disease and may help to identify candidate drugs that can help control glaucoma.

Researchers require thousands of the 300 000 current suffers to participate in the study to further refine the genetic predictive test, making it even more accurate. This research project offers hope for predictive screening, monitoring and treatment initiatives—but we need your help. Will you take part in this exciting new study?

visit Genetics of Glaucoma website

QIMR-HREC approval reference: P3423

Recruitment status: OPEN

Open date: October 2018

Close date: ONGOING (seeking 10 000 participants)


Study Coordinator: Professor Stuart MacGregor

T: 07 3845 3981


A: QIMR Berghofer Medical Research Institute

Locked Bag 2000, Royal Brisbane Hospital,

Herston, QLD, 4029, AUSTRALIA

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