The ARMS2 A69S variant and bilateral advanced age-related macular degeneration

Stephen G. Schwartz, Anita Agarwal, Jaclyn L. Kovach, Paul J. Gallins, William Cade, Eric A. Postel, Gaofeng Wang, Juan Ayala-Haedo, Kylee M. Spencer, Jonathan L. Haines, Margaret A. Pericak-Vance, William K. Scott

Research output: Contribution to journalArticle

17 Scopus citations


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 × 108), and unilateral late AMD versus bilateral late AMD (P = 5.9 × 10). 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.

Original languageEnglish (US)
Pages (from-to)1486-1491
Number of pages6
Issue number8
StatePublished - Sep 1 2012



  • age-related macular degeneration
  • ARMS2
  • choroidal neovascularization
  • genotypes
  • geographic atrophy

ASJC Scopus subject areas

  • Ophthalmology

Cite this