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Rachel M. Cymerman, Nicole Marie Pumariega, Adam Sperber, K Bailey Freund, Theodore Smith; Association Between Genotype and Age of Presentation of Large Soft Drusen in Early Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2227.
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Patients with large soft drusen, hallmark lesions of early age-related macular degeneration (AMD), may progress to geographic atrophy and choroidal neovascularization, the later, more severe forms of AMD. Recent studies have implicated the complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) gene loci as possible contributors to both large soft drusen and advanced AMD. The goal of our study was to identify retrospectively patients with large soft drusen who had not yet progressed to advanced AMD and examine their genotypes to determine if there is an association between variants at these loci and age of presentation of large soft drusen.
We retrospectively identified 36 consecutive patients from a single institution, between the ages of 60 and 90 years, who had large soft drusen on infrared (IR)/optical coherence tomography (OCT) imaging in one or both eyes, no advanced AMD or reticular pseudodrusen in either eye and genotyping at the CFH and ARMS2 loci. We divided patients into 3 groups based on CFH genotype [wild type (T/T), heterozygous (T/C) and homozygous for the risk allele (C/C)] and 3 groups based on ARMS2 genotype [wild type (G/G), heterozygous (G/T) and homozygous for the risk allele (T/T)]. We calculated the mean age of large soft drusen presentation for each group and performed paired T-testing to determine statistical significance.
Of the patients identified, 5 were wild type, 22 were heterozygous and 9 were homozygous with 2 risk alleles at the CFH locus. Patients with homozygosity for the CFH risk allele had a statistically significantly younger mean age of soft drusen presentation than patients who were heterozygous or wild type at this locus (68.55 vs 73.68 years, p<0.0064). No statistically significant difference in age of presentation was found between patients who were heterozygous and those who were wild type. No statistically significant differences in age of presentation were associated with presence or absence of the ARMS2 risk allele.
Patients with homozygosity for the CFH risk allele had a statistically significant younger age of large soft drusen presentation than patients who were heterozygous or wild type. Though specific components of drusen determined by the CFH gene are not yet known, the association between CFH genotype and age of presentation may have implications for patient screening.
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