Ontology highlight
ABSTRACT: Purpose
To identify genetic associations between specific risk genes and bilateral advanced age-related macular degeneration (AMD) in a retrospective, observational case series of 1,003 patients: 173 patients with geographic atrophy in at least 1 eye and 830 patients with choroidal neovascularization in at least 1 eye.Methods
Patients underwent clinical examination and fundus photography. The images were subsequently graded using a modified grading system adapted from the Age-Related Eye Disease Study. Genetic analysis was performed to identify genotypes at 4 AMD-associated variants (ARMS2 A69S, CFH Y402H, C3 R102G, and CFB R32Q) in these patients.Results
There were no statistically significant relationships between clinical findings and genotypes at CFH, C3, and CFB. The genotype at ARMS2 correlated with bilateral advanced AMD using a variety of comparisons: unilateral geographic atrophy versus bilateral geographic atrophy (P = 0.08), unilateral choroidal neovascularization versus bilateral choroidal neovascularization (P = 9.0 × 10(-8)), and unilateral late AMD versus bilateral late AMD (P = 5.9 × 10(-8)).Conclusion
In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 eye, the ARMS2 A69S substitution strongly associated with geographic atrophy or choroidal neovascularization in the fellow eye. The ARMS2 A69S substitution may serve as a marker for bilateral advanced AMD.
SUBMITTER: Schwartz SG
PROVIDER: S-EPMC4269218 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Schwartz Stephen G SG Agarwal Anita A Kovach Jaclyn L JL Gallins Paul J PJ Cade William W Postel Eric A EA Wang Gaofeng G Ayala-Haedo Juan J Spencer Kylee M KM Haines Jonathan L JL Pericak-Vance Margaret A MA Scott William K WK
Retina (Philadelphia, Pa.) 20120901 8
<h4>Purpose</h4>To identify genetic associations between specific risk genes and bilateral advanced age-related macular degeneration (AMD) in a retrospective, observational case series of 1,003 patients: 173 patients with geographic atrophy in at least 1 eye and 830 patients with choroidal neovascularization in at least 1 eye.<h4>Methods</h4>Patients underwent clinical examination and fundus photography. The images were subsequently graded using a modified grading system adapted from the Age-Rel ...[more]