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Seanna R. Grob, Xinrong Zhou, Guy Hughes, Yuhong Chen, Matt Bedell, Rachel Devadhason, Igor Kozak, Kang Zhang; Genotypic Comparison Of Patients With Simultaneous Geographic Atrophy And Choroidal Neovascularization And Patients With Each One Separately. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5237.
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To investigate clinical presentation and genotypes in patients presenting with simultaneous geographic atrophy (GA) and choroidal neovascularization (CNV) and to compare the results to patients with just GA or CNV only.
A database review was performed to determine 154 patients each with CNV only and GA only. Twenty patients with "CNV and GA" were chosen based on exam and imaging. Seven single nucleotide polymorphisms (SNPs) - rs2274700 and rs1061170 in CFH, rs1120638 in HTRA1, rs17611 in C5, rs2230199 in C3 and rs9332739 in C2 - were genotyped using the SNaPshot method. Chi-squared tests were used for analysis of genetic data.
In patients with "CNV and GA", GA progressed slowly and often preceded CNV. CNV presented as subretinal hemorrhage or fluid without hemorrhage. When CNV developed simultaneously, there was often an abrupt drop in visual acuity (VA), with average current VA of 20/200. In comparing "GA and CNV" group to GA only and CNV only, there is a trend that patients with both CNV and GA had a higher frequency of at risk alleles within the HTRA1 gene - rs11200638 (52.6%) when comparing to GA only patients (40.2%, 46.2%) or CNV only patients (42.9%, 41.9%), although statistical significance was not achieved.
There are a scarcity of reports describing simultaneous GA and CNV. Clinical and genetic results support the fact that both GA and CNV fit on an AMD-disease continuum. There is a trend that patients with both CNV and GA had a higher frequency of at risk alleles at HTRA1 gene This finding may help increase our understanding of the disease processes involved in AMD. Further studies on more cases with concomitant GA and CNV are needed.
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