Professor Robyn Guymer AM has dedicated her career to trying to stop people with age-related macular degeneration (AMD) from losing their vision.

After several years of collaboration between diverse research groups enabled by the National Health and Medical Research Council, the Synergy High Risk Age-related Macular Degeneration Study has put new answers closer at hand.

“We’re now at the exciting stage – we are at the brink of really investigating the data we have worked for several years to accumulate,” says Professor Guymer.

“We have the genetics, the cell lines, the preclinical models ready, as well as all the eye data and specimens collected.

“We now just have to look at what we have and tie it all together.”

Synergy study

Several years ago, advances in the technology used to examine people’s eyes revealed differences in the deposits that accumulate in the retinae of people diagnosed with AMD.

Deposits named reticular pseudodrusen (RPD) were found to be associated with more symptoms and were also thought to increase people’s risk of developing late-stage AMD.

“What are reticular pseudodrusen, what causes them, and how do we stop them from forming?” Professor Guymer asks.

“This is essentially a single question, but it needs a multi-skilled team to solve.”

That single question prompted the establishment of the Synergy High Risk Age-related Macular Degeneration Study, led by CERA in partnership with the University of Melbourne, WEHI and international collaborators.

Entering its final year in 2024, it is exploring the genetics associated with reticular pseudodrusen and AMD, whether this explains how these deposits develop and if knowing this could point towards new treatments.

Professor Guymer says earlier work by her team suggested there was something about reticular pseudodrusen that meant people with these deposits didn’t respond as well to interventions aimed at slowing the progression of AMD.

“This finding made us realise that understanding reticular pseudodrusen was a critical endeavour,” she says.

Investigating causes

Professor Guymer says the much of the early years of the Synergy grant have been spent collecting information from collaborators around the world about AMD patients whose reticular pseudodrusen status is well-documented.

“Now that we have all the data, we are poised to look in-depth for genetic signals that correlate with the reticular pseuodrusen disease.”

As part of this work Professor Guymer’s team, led by Associate Professor Zhichao Wu, has developed an algorithm that enables the automatic detection of reticular pseudodrusen, as well as the amount of deposit, in a retinal image.

“The ability to quickly determine if the eye has reticular pseudodrusen, and the extent of the lesions, is a major step forward,” says Professor Guymer.

Other members of the Synergy grant team are using skin biopsy and blood samples to try to find additional links.

“Another idea is that reticular pseudodrusen is associated with a problem of the vessels in the body that carry blood and oxygen,” says Professor Guymer.

“AMD is associated with cardiovascular disease, but we need to work out whether cardiovascular disease is more related to those people who have reticular pseudodrusen as part of their AMD.”

While a complex challenge, Professor Guymer says it has been highly rewarding.

“Synergy has united colleagues with a range of research skills and developed new collaborations between international groups.”

This story was originally published in People in focus: Annual Review 2023.