AIM: To investigate clinical presentation and genotypes in patients with simultaneous geographic atrophy (GA) and choroidal neovascularization (CNV) and to compare with patients with GA or CNV only. PATIENTS AND METHODS: Twenty patients with combined CNV-GA and 154 CNV only and 154 GA only were chosen based on clinical exam and imaging. Six single-nucleotide polymorphisms (SNPs)-rs2274700 and rs1061170 (complement factor H), rs10490924 and rs11200638 (HTRA1/LOC387715), rs2230199 (C3), rs9332739 (C2)-were genotyped using the SNaPshot method. Chi-squared tests were used for genetic analysis. RESULTS: In patients with CNV-GA, GA progressed slowly and often preceded CNV. CNV presented as subretinal haemorrhage or fluid, with a sudden drop in visual acuity (VA). Comparing combined CNV-GA to GA and CNV only, patients with both had a higher frequency of at-risk alleles at both SNPs within the HTRA1 gene-rs10490924 (52.5%), rs11200638 (52.6%). Statistical significance was not achieved. CNV-GA patients had no protective alleles at SNP rs9332739 (C2), compared with GA (27%) and CNV only (10%). CONCLUSION: There is a paucity of reports describing simultaneous CNV-GA. Clinical and genetic results may support the fact that GA and CNV fit on an age-related macular degeneration (AMD)-disease continuum and may clarify the disease processes in AMD.
AIM: To investigate clinical presentation and genotypes in patients with simultaneous geographic atrophy (GA) and choroidal neovascularization (CNV) and to compare with patients with GA or CNV only. PATIENTS AND METHODS: Twenty patients with combined CNV-GA and 154 CNV only and 154 GA only were chosen based on clinical exam and imaging. Six single-nucleotide polymorphisms (SNPs)-rs2274700 and rs1061170 (complement factor H), rs10490924 and rs11200638 (HTRA1/LOC387715), rs2230199 (C3), rs9332739 (C2)-were genotyped using the SNaPshot method. Chi-squared tests were used for genetic analysis. RESULTS: In patients with CNV-GA, GA progressed slowly and often preceded CNV. CNV presented as subretinal haemorrhage or fluid, with a sudden drop in visual acuity (VA). Comparing combined CNV-GA to GA and CNV only, patients with both had a higher frequency of at-risk alleles at both SNPs within the HTRA1 gene-rs10490924 (52.5%), rs11200638 (52.6%). Statistical significance was not achieved. CNV-GA patients had no protective alleles at SNP rs9332739 (C2), compared with GA (27%) and CNV only (10%). CONCLUSION: There is a paucity of reports describing simultaneous CNV-GA. Clinical and genetic results may support the fact that GA and CNV fit on an age-related macular degeneration (AMD)-disease continuum and may clarify the disease processes in AMD.
Authors: Michael L Klein; Frederick L Ferris; Peter J Francis; Anne S Lindblad; Emily Y Chew; Sara C Hamon; Jurg Ott Journal: Ophthalmology Date: 2010-04-09 Impact factor: 12.079
Authors: Neil M Bressler; Susan B Bressler; Nathan G Congdon; Frederick L Ferris; David S Friedman; Ronald Klein; Anne S Lindblad; Roy C Milton; Johanna M Seddon Journal: Arch Ophthalmol Date: 2003-11
Authors: John R W Yates; Tiina Sepp; Baljinder K Matharu; Jane C Khan; Deborah A Thurlby; Humma Shahid; David G Clayton; Caroline Hayward; Joanne Morgan; Alan F Wright; Ana Maria Armbrecht; Baljean Dhillon; Ian J Deary; Elizabeth Redmond; Alan C Bird; Anthony T Moore Journal: N Engl J Med Date: 2007-07-18 Impact factor: 91.245
Authors: Hendrik P N Scholl; Monika Fleckenstein; Lars G Fritsche; Steffen Schmitz-Valckenberg; Arno Göbel; Christine Adrion; Christine Herold; Claudia N Keilhauer; Friederike Mackensen; Andreas Mössner; Daniel Pauleikhoff; Andreas W A Weinberger; Ulrich Mansmann; Frank G Holz; Tim Becker; Bernhard H F Weber Journal: PLoS One Date: 2009-10-12 Impact factor: 3.240