Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population.

Ophthalmology
Keisuke MoriSatoshi Inoue

Abstract

To describe phenotype and genotype characteristics of age-related macular degeneration (AMD) in Japanese patients. A case-control study. A total of 550 case-control samples composed of 408 consecutive AMD cases and 142 controls. Clinical information assessing age, gender, affected eyes, fundus features, and fluorescein/indocyanine green angiograms were systematically evaluated. Four single nucleotide polymorphisms (SNPs; rs800292, rs1061170, rs1410996, rs2274700) in the complement factor H (CFH) gene, 1 SNP (rs11200638) in the high-temperature requirement factor A1 (HTRA1) gene, 3 SNPs (rs699947, rs1570360, rs2010963) in the vascular endothelial growth factor (VEGF) gene, and 4 SNPs (rs12150053, rs12948385, rs9913583, rs1136287) in the pigment epithelium-derived factor (PEDF) gene were assessed using TaqMan technology. The clinical phenotype information and genotypes of CFH, HTRA1, VEGF, and PEDF polymorphisms. Of Japanese patients with neovascular AMD (nAMD), 219 (58.7%) had typical nAMD and 154 (41.3%) had polypoidal choroidal vasculopathy (PCV). The frequency of bilateral exudative involvement was similar between typical nAMD (15.5%) and PCV (13.6%) (P = 0.613). Significant soft drusen were observed in the fellow eyes of 88 ...Continue Reading

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