- Researchers and a person living with macular degeneration are available for interview in East Melbourne today.
Australian researchers have for the first time pinpointed specific genetic changes that increase the risk of severe, sight-threatening forms of age-related macular degeneration (AMD).
A new study, published today in Nature Communications, reveals the 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.
The research, led by the Centre for Eye Research Australia, WEHI and the University of Melbourne, offers a promising new target for treatments aimed at the most severe forms of AMD, including geographic atrophy.
AMD is a leading cause of irreversible blindness in people over 50 worldwide, resulting from the death of light-sensing cells in the macula, the part of the retina needed for central vision.
Globally, more than 196 million people have AMD. In its early stages, it is difficult to predict who is most at risk of vision loss and when treatment should begin. Current therapies can only slow disease progression once significant damage has occurred.
The Australian team led a large international study which, for the first time, pinpointed a key difference in genetic changes in the group with reticular pseudodrusen – finding a strong link with genetic variations on Chromosome 10 but no link to other well-known AMD genes changes on Chromosome 1.
Eye scans of people with this genetic variation also revealed a thinner retina, a finding that warrants further investigation.
Study co-lead Professor Robyn Guymer AM, from the Centre for Eye Research Australia, 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 said.
“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.”
Co-lead Professor Melanie Bahlo AM from WEHI said this was the first genome-wide analysis of the genetic drivers behind reticular pseudodrusen.
“In 2005, researchers first linked changes on Chromosome 1 including the complement factor H (CFH) gene, part of the immune system, to AMD,’’ she said. “Recently, new treatments targeting these changes have shown modest success in slowing down the disease.
“Our study is the first to suggest that reticular pseudodrusen deposits are driven by pathways associated with Chromosome 10 but not by the well-known AMD-related genes on Chromosome 1.
“This is a significant finding. It demonstrates the need to explore how genetic changes on Chromosome 10 affect retinal structure and to develop therapies that go beyond complement factor to targeting to prevent sight-threatening deposits on the retina.”
The research was funded by a National Health and Medical Research Council Synergy Grant.
Read the study: Farashi S, et al. HTRA1/lncRNA HTRA1-AS1 dominates in Age-Related Macular Degeneration Reticular Pseudodrusen Genetic Risk with no Complement involvement. Nature Communications. 2025, doi: 10.1038/s41467-025-65903-9
About us:
About the Centre for Eye Research Australia The Centre for Eye Research Australia (CERA) is an independent medical research institute affiliated with the Royal Victorian Eye and Ear Hospital and the University of Melbourne. An international leader in eye research, we’re deeply committed to conducting research with real-life impact. Our goal is to prevent vision loss and blindness and, ultimately, find cures to restore sight. Learn more
About WEHI (Walter and Eliza Hall Institute of Medical Research WEHI is where brilliant minds collaborate and innovate to make life-changing scientific discoveries that help people live healthier for longer. Our medical researchers have been serving the community for more than 100 years, making transformative discoveries in cancer, infection and immunity, and lifelong health. At WEHI, we are brighter together. Lean more
Contact details:
Centre for Eye Research Australia (CERA) - Janine Sim-Jones +61 420 886 511 [email protected]
WEHI - Patrick Gallus +61 475 751 811 [email protected]