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

Stephen Schwartz, Anita Agarwal, Jaclyn 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 Citations (Scopus)

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 × 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
Pages (from-to)1486-1491
Number of pages6
JournalRetina
Volume32
Issue number8
DOIs
StatePublished - Sep 1 2012

Fingerprint

Geographic Atrophy
Macular Degeneration
Choroidal Neovascularization
Genotype
Eye Diseases
Photography
Genes

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

Cite this

The ARMS2 A69S variant and bilateral advanced age-related macular degeneration. / Schwartz, Stephen; Agarwal, Anita; Kovach, Jaclyn; Gallins, Paul J.; Cade, William; Postel, Eric A.; Wang, Gaofeng; Ayala Haedo, Juan; Spencer, Kylee M.; Haines, Jonathan L.; Pericak-Vance, Margaret A; Scott, William K.

In: Retina, Vol. 32, No. 8, 01.09.2012, p. 1486-1491.

Research output: Contribution to journalArticle

Schwartz, S, Agarwal, A, Kovach, J, Gallins, PJ, Cade, W, Postel, EA, Wang, G, Ayala Haedo, J, Spencer, KM, Haines, JL, Pericak-Vance, MA & Scott, WK 2012, 'The ARMS2 A69S variant and bilateral advanced age-related macular degeneration', Retina, vol. 32, no. 8, pp. 1486-1491. https://doi.org/10.1097/IAE.0b013e318240a540
Schwartz, Stephen ; Agarwal, Anita ; Kovach, Jaclyn ; Gallins, Paul J. ; Cade, William ; Postel, Eric A. ; Wang, Gaofeng ; Ayala Haedo, Juan ; Spencer, Kylee M. ; Haines, Jonathan L. ; Pericak-Vance, Margaret A ; Scott, William K. / The ARMS2 A69S variant and bilateral advanced age-related macular degeneration. In: Retina. 2012 ; Vol. 32, No. 8. pp. 1486-1491.
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AU - Postel, Eric A.

AU - Wang, Gaofeng

AU - Ayala Haedo, Juan

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