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PurposeThe purpose of this study was to investigate whether the genetic risk factors of age-related macular degeneration (AMD) are associated with the development of choroidal neovascularization (CNV) in highly myopic eyes of elderly Japanese.MethodsHighly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated single nucleotide polymorphisms (SNPs), namely rs10490924 (A69S) of ARMS2, rs11200638 of HTRA1, and rs1061170 (Y402H) of complement factor H (CFH), with the TaqMan SNP assay. One hundred and eighty-three unrelated highly myopic (axial lengths >26.00 mm or refractive errors >−6.0 diopters) Japanese patients with CNV who were 50 years of age (mean age±standard deviation of 62.7±6.3 years) and 170 highly myopic patients without CNV who were 50 years old (62.3±7.1 years) were studied. The differences in the genotypic distributions for the three SNPs between the two groups were tested with the Trend χ2 test, and logistic regression analyses were performed for age and gender adjustment.ResultsNo significant difference was detected in the distribution of the three SNPs, rs10490924 (P>0.1), rs11200638 (P>0.1), and rs1061170 (P>0.5), between the two groups even after adjustments for age and gender differences.ConclusionThe genetic risk factors of AMD related to these SNPs do not contribute significantly to the development of CNV in a highly myopic elderly Japanese population. [ABSTRACT FROM AUTHOR]

BackgroundEmerging evidences suggest that circulating hematopoietic stem cells (HSCs) affect the pathogenesis of choroidal neovascularization (CNV), however, the roles of HSCs in CNV remain unclear in human population. The current study was designed to investigate the role of HSCs in the pathogenesis of CNV secondary to pathologic myopia (PM).MethodsWe clinically documented 78 patients with CNV in PM, and 35 of 78 patients and 28 age-matched controls were experimentally analysed. Functional analyses of HSCs were performed using an ex vivo culture system.ResultsWe disclosed colony-forming units of endothelial cell (CFU-EC) were markedly lower in patients with bilateral CNV compared to those with unilateral CNV (13.8±3.7 vs 45.9±7.8, P<0.001). Systemic characteristics between both groups showed no significant difference. To identify local ocular factors that may affect the occurrence of CNV, clinical parameters were compared with the following groups in all enrolled subjects: eyes with CNV vs without CNV in unilateral affected patients, and primary affected eyes vs secondary affected eyes in patients with bilateral CNV. However, no statistically significant factors were identified in any of the groups.ConclusionsCirculating HSCs may play a role in the bilateral involvement of CNV in PM patients as one of the systemic factors. Further prospective and longitudinal studies are required.Eye (2009) 23, 718–726; doi:10.1038/eye.2008.192; published online 20 June 2008 [ABSTRACT FROM AUTHOR]