MELBOURNE, Dec. 9 (Xinhua) -- Scientists in Australia have for the first time pinpointed specific genetic changes that increase the risk of severe, sight-threatening age-related macular degeneration (AMD).
The new study 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 percent of people with advanced AMD, a media release from Australia's Walter and Eliza Hall Institute of Medical Research (WEHI) said Tuesday.
Led by the Center for Eye Research Australia (CERA), WEHI and the University of Melbourne, the research offers a promising new target for treatments aimed at the most severe forms of AMD, including geographic atrophy, it said.
AMD, a leading cause of blindness in people over 50, results from the death of light-sensing cells in the macula, the retina's central vision area, affecting over 196 million globally, with current therapies only slowing progression after significant damage, researchers said.
The findings, published in Nature Communications, revealed 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, the release said.
The results highlight that AMD is not a single disease but a group of related conditions potentially requiring tailored treatment approaches, said study co-lead, CERA Professor Robyn Guymer.
"Our research has now identified which of the genetic changes appear to be driving this more serious form of AMD," said Guymer.
"This discovery provides a crucial lead for developing new drugs that target these changes, potentially preventing vision loss before it begins," she said. ■
