Identifying people at high risk of glaucoma

This research project is looking at ways to identify people at high risk of developing glaucoma so that they can be diagnosed early and treated before they start losing vision. To help find out what puts people in a high-risk category for glaucoma, the project is establishing the world’s largest registry of advanced glaucoma cases. The project team is researching DNA to identify new genes linked to glaucoma and gain a better understanding of glaucoma and its management.

Glaucoma is the second leading cause of blindness worldwide, affecting 60 million people. It is estimated there are 150,000 people with glaucoma in Australia. It is critical that they be diagnosed early in order to minimise their vision loss and to ensure that they receive appropriate treatment.

Objectives

The principal aims of this project are to:

• establish the world’s largest cohort of advanced glaucoma cases. This would assist in accelerating future research projects aimed at identifying new glaucoma genes and genetic risk profiles.
• identify and disseminate clinical and epidemiological risk factors for advanced OAG.

The specific aims of this project are to:

• identify and offer recruitment for individuals with glaucoma blindness. A successfully established model from South Australia will be used across Australia and New Zealand.
• apply strict entry criteria based on clinical information.
• obtain and analyse clinical and demographic information as well as high quality DNA samples.
• perform genetic testing for Myocilin (MYOC) or CYP1B1 genes (depending on diagnosis) in a National Association of Testing Authorities-accredited laboratory, enabling feedback of results.
• ensure timely feedback to individuals and referring practitioners coordinated by a genetic counsellor, under the supervision of  ophthalmologists expert in the field.
• facilitate cascade screening in MYOC pedigrees to prevent glaucoma blindness.
• facilitate genetic counselling and provide reproductive options in cases of congenital and developmental glaucoma.

Achievements

The project team has started recruiting participants with advanced glaucoma and over 1,100 DNA samples have been collected and entered into the database. Screening for the Myocilin (MYOC) gene has also commenced, with results being supplied to the registry for dissemination.

Benefits to participants

Even though this research is only three years into a five year project, it is already saving people’s vision and benefiting lives.  For example, a gentleman with severe, longstanding glaucoma was recently referred to the study. Glaucoma had caused blindness in one eye, and DNA testing revealed a Myocilin mutation as the cause. Genetic counselling followed and both his sister and son agreed to be examined as part of the cascade screening process. Early signs of glaucoma were detected in both relatives, however it is envisaged that early treatment as a result of their early diagnosis may now prevent loss of vision.

Medical team

This project is led by A/Prof Jamie Craig and involves Dr Kathryn Burdon, Dr Alex Hewitt, Emmanuelle Souzeau and Bronwyn Usher.

Project partners

The Flinders Medical Centre in South Australia, the Department of Genetic Pathology at Flinders University, the Royal Society for the Blind (South Australia), Glaucoma Australia, the Australian Genome Research Facility, and the Genetic Epidemiology Unit at the Queensland Institute of Medical Research. Blackmores Australia and Novartis Pharmaceuticals are generous supporters of this project through the Foundation.

Contact us

If you would like more information about this project, contact us or visit the project website. To make a donation to support this project, click here.