RT Journal Article SR Electronic T1 Prevalence of age-related macular degeneration associated genetic risk factors and 4-year progression data in the Irish population JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 1691 OP 1695 DO 10.1136/bjophthalmol-2017-311673 VO 102 IS 12 A1 Connolly, Emma A1 Rhatigan, Maedbh A1 O’Halloran, Aisling M A1 Muldrew, Katherine Alyson A1 Chakravarthy, Usha A1 Cahill, Mark A1 Kenny, Rose Anne A1 Doyle, Sarah L YR 2018 UL http://bjo.bmj.com/content/102/12/1691.abstract AB Background/aims Age-related macular degeneration (AMD) is estimated to affect 196 million people >50 years old globally. Prevalence of AMD-associated genetic risk factors and rate of disease progression are unknown in Ireland.Methods Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed. 4473 participants ≥50 years were assessed. 4173 had no disease n=1843; 44% male and n=2330; 56% female, mean age 60±9.0, 300 had AMD n=136; 45% male and n=164; 55% female, mean age 64±9.0. A 4-year follow-up was undertaken with 66% of AMD cases attending. Progression and regression from early to late AMD were measured. Genetic association as indicators of disease and as predictors of progression were assessed by multinomial logistic regression.Results Older age and the presence of CFH and ARMS2 risk alleles are two main risk factors associated with the prevalence of AMD in the TILDA cohort. 23% progressed to a higher grade of AMD. Carriers of CFH risk allele showed a strong association for disease progression. Heterozygosity for ARMS2 risk allele predicted progression to late AMD. 75% of those who progressed from early to late disease had soft drusen and hyperpigmentation at baseline.Conclusions The prevalence of risk-associated genes and 4-year progression rates of AMD in this Ireland cohort are comparable with other Caucasian populations. CFH Y402H is associated with disease progression, with soft drusen and hyperpigmentation as high-risk features.