A new study published 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 age-related macular degeneration (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.
The Australian team led a large international study which, for the first time, pinpointed a key difference in genetic changes in people 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 - finding that warrants further investigation.
Study co-lead , CERA's Professor Robyn Guymer AM 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."
A crucial lead
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."
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