NIH
NIH: Genetic variants signal risk for blindness in AMD
An NIH-funded international study found that reticular pseudodrusen (RPD)—deposits linked to faster progression to geographic atrophy in age-related macular degeneration (AMD)—are genetically distinct from typical drusen. Researchers compared three groups: AMD with RPD, AMD without RPD, and controls. Both AMD groups shared risk variants on chromosomes 1 and 10, but RPD cases showed a stronger association with chromosome 10. These findings, published in Nature Communications, reinforce that AMD is not a single disease and may explain why complement-targeting drugs offer only modest benefit. Clinically, the presence of RPD should prompt closer monitoring and consideration of therapies beyond complement inhibition. Genetic profiling may help identify patients at highest risk for progression.
Source:
(2025, December 8). NIH. Researchers find genetic basis for important risk factor in blinding eye disease. https://www.nih.gov/news-events/news-releases/researchers-find-genetic-basis-important-risk-factor-blinding-eye-disease