The global Synergy High Risk Age-related Macular Degeneration (AMD) Study – led by CERA’s Head of Macular Research Professor Robyn Guymer AM – has pinpointed the specific genetic changes that increase the risk of severe, sight-threatening forms of AMD.

Results from the five-year project, with collaborators from WEHI and the University of Melbourne, are providing promising new targets for treatments for the most severe forms of macular degeneration including geographic atrophy.

The research revealed specific genetic factors linked to the presence of reticular pseudodrusen – deposits which drive vision loss and are found on the retina of up to 60 per cent of people with advanced AMD.

Published in the journal Nature Communications, their findings pinpointed a key difference in genetic changes that are associated with additional deposits of reticular pseudodrusen in a type of AMD – finding a strong link with genetic variations on Chromosome 10 but no link to other well-known AMD genes changes on Chromosome 1.

Professor Guymer said the results highlight that AMD is not a single disease but a group of related conditions potentially requiring tailored treatment approaches.

“Reticular pseudodrusen deposits, visible in eye scans, have been linked to worse visual function and poorer treatment outcomes,’’ she says.

“Our research has now identified which of the genetic changes appear to be driving this more serious form of AMD.

“This discovery provides a crucial lead for developing new drugs that target these changes — potentially preventing vision loss before it begins.” The research collaboration which brought together researchers and clinicians from a wide array of disciplines — coordinating data from participants all over the world — was funded by a National Health and Medical Research Council (NHMRC) Synergy Grant.

Major steps

The year also marked a turning point for patients with geographic atrophy — the dry form of late AMD — after Australia’s Therapeutic Goods Administration approved the first, then the second, treatment for the condition.

Professor Guymer led the Centre for Eye Research Australia’s site of the international clinical trial into the first new drug and was on the global advisory committee for the pharmaceutical company Apellis.

The Phase 3 OAKS and Derby studies demonstrated that regular eye injections with pegcetacoplan slowed down the growth of lesions in which the retina’s light-sensing photoreceptor cells die.

“The approval is a game changer for the treatment of geographic atrophy and brings hope to tens of thousands of Australians who have been waiting for a treatment,’’ Professor Guymer says.

Professor Guymer says the approval is a positive first step, with scientists now hoping to continue research which aims to find ways of preventing damage before it occurs.

In 2025 Professor Guymer was also awarded a five-year Investigator Grant by the NHMRC – allowing her to further CERA’s research into the early detection and treatment of AMD.

With this NHMRC investment, Professor Guymer aims to advance research focused on detecting and treating AMD in its earliest stages.

“This remains our goal – to stop AMD before it threatens sight. To do this we need to understand exactly what causes it and move to find new targets for future treatments.”

This story was originally published in Creating the future in sight: Annual Review 2025.