New Therapies for ARMD 1 Thursday 17 May 14:30 - 16:00 Salle Camille Blanc
I. Chowers, Y. Cohen, I. Hemo, E. Banin, E. Averbukh, M. Lederman,
ISRAEL
Evaluation of phenotype: Genotype correlation in neovascular age related macular degeneration
Purpose: Single nucleotide polymorphisms (SNPs) in complement factor H (CFH) and chromosome 10q26 are strongly associated with age related macular degeneration (AMD) in several populations. We aim to evaluate if these SNPs underlie heterogeneity in clinical manifestations and response to photodynamic therapy (PDT) which characterize neovascular AMD (NVAMD). Setting: A retrospective analysis of 90 NVAMD patients and 67 unaffected controls treated in a tertiary referral center. Methods: Genotyping was performed for SNPs previously associated with AMD in other populations including the Tyr402His variant of CFH, rs10490924 on chromosome 10q26, and additional four SNPs in B factor and complement component C2. Genotyping was correlated with clinical characteristics of NVAMD and with PDT parameters. Results: The Tyr402His variant of CFH (Odds Ratio = 1.8, 95% Confidence Interval: 1.2-2.9, p = 0.012) and T allele of rs10490924 (Odds Ratio = 2.8, 95% Confidence Interval: 1.7-4.7, p < 0.0001) were associated with NVAMD in our population. There was no association among these SNPs and neovascular lesion size, lesion type according to fluorescein angiography, presenting visual acuity, number of PDT required, and final visual acuity. There was a trend towards association between family history of AMD and younger age of onset of NVAMD and the T allele of rs10490924. Conclusions: The Tyr402His variant of CFH, and the T allele of rs10490924 are associated with NVAMD in Israel. However, we show that heterogeneity in clinical manifestations of NVAMD and in its response to PDT is not attributable to these SNPs and may be accounted for by other genetic and/or environmental factors.
