BACKGROUND

Although polygenic risk scores (PRSs) have been developed for age-related macular degeneration (AMD), it is not known whether these scores are associated with changes of retinal microstructures in early AMD. We compared retinal microstructures due to age-related changes in eyes with healthy macula in people aged 55 years or above versus those with early AMD and then determined the associations of retinal microstructural changes with AMD PRS.

METHODS

Participants aged 55 years or above with healthy macula and a group of people with early or intermediate AMD from the Northern Ireland Sensory Ageing study were included. 45 SNPs were included for PRS calculation.

RESULTS

A total of 470 participants with healthy macula were included (Beckman stage 0 or 1). The comparator group consisted of participants with early AMD (n = 87) or intermediate AMD (n = 48). We found that photoreceptor layer thickness decreased with age in all participants, while retinal pigment epithelium (RPE) layer thickness decreased only in those with apparently healthy macula (P < 0.05). Higher PRS was associated with thinner photoreceptor and RPE layer thickness, larger drusen size and presence of soft drusen.

CONCLUSIONS

We observed a significant association between higher PRS and decreased photoreceptor layer thickness, irrespective of the macular status. Our study provides additional evidence supporting the role of genetics on pathological processes of AMD.