Overview
- A Nature Communications paper led by the Centre for Eye Research Australia, WEHI and the University of Melbourne reports results from an international consortium supported by the NEI and Australia’s NHMRC.
- Genome-wide analyses comparing AMD with and without reticular pseudodrusen and controls pinpointed a strong association at the ARMS2/HTRA1 region, including variants in the lncRNA HTRA1‑AS1.
- No corresponding reticular pseudodrusen association was detected at chromosome 1 complement genes that have been central to AMD genetics since 2005.
- Carriers of the chromosome 10 risk variants showed thinner retinas on imaging, indicating a structural correlate that requires further investigation.
- Researchers emphasize AMD comprises genetically distinct subtypes and urge mechanistic studies and treatments tailored beyond complement-pathway inhibition.