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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Schwartz, SG; Agarwal, A; Kovach, JL; Gallins, PJ; Cade, W; Postel, EA; Wang, G; Ayala-Haedo, J; Spencer, KM; Haines, JL; Pericak-Vance, MA; Scott, WK

Published Date

  • September 2012

Published In

Volume / Issue

  • 32 / 8

Start / End Page

  • 1486 - 1491

PubMed ID

  • 22481475

Pubmed Central ID

  • PMC4269218

Electronic International Standard Serial Number (EISSN)

  • 1539-2864

Digital Object Identifier (DOI)

  • 10.1097/IAE.0b013e318240a540


  • eng

Conference Location

  • United States