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30th January 2020 Eye Health

Genetic test to prevent vision loss from glaucoma

Dr Emmanuelle Souzeau

Early diagnosis key to improving eye health.

It begins with no warning or symptoms, creeping up slowly and undetected, until one day it develops into a disease that can rob you of your most prized possession – your eyesight.

So, if you were at higher risk of developing glaucoma, wouldn’t you want to know about it sooner?

Thanks to funding from The Hospital Research Foundation, this could soon be an option for people at risk of glaucoma – a progressive eye condition which can lead to blindness if left untreated.

Glaucoma is one of the most hereditary of all common diseases and Dr Emmanuelle Souzeau from Flinders University is looking into how we can use genetic tests to improve early diagnosis and give people a better chance at managing the condition.

“We often think of glaucoma as a condition that affects older people but it can actually affect people of any age, including babies, children and young adults,” Dr Souzeau says.

“Glaucoma is treatable but diagnosing people early is essential to minimise any loss of vision”.

“People do not usually experience symptoms when glaucoma starts, which is why having an eye check by an optometrist or an ophthalmologist is the only way to detect glaucoma.”

Dr Souzeau is tapping into a registry of over 7200 patients with glaucoma and their family members across Australia and New Zealand to better define the genetic changes that cause glaucoma, gauge people’s attitudes to genetic testing and support families which may be affected.

“Although we have identified new genes associated with glaucoma in adults and in children, there is still a lot more that needs to be discovered,” she says.

“Predictive genetic testing for glaucoma is able to identify at-risk individuals before vision loss occurs. Individuals can then be treated earlier, thereby preventing blindness that occurs with late-stage untreated glaucoma.”

Another area of Dr Souzeau’s project will investigate the impact of being diagnosed with glaucoma as a child or teenager and the impact this has on their parents, to help improve the level of support and resources to affected families.

“We have now interviewed 60 individuals who have been diagnosed with glaucoma as a child and their parents to explore what impact the condition has had on them and their families.

“I am extremely grateful to THRF and its donors because without their support, this research would not be feasible.”

We look forward to keeping you updated!