Retinal Vessel Functionality Is Linked With ARMS2 A69S and CFH Y402H Polymorphisms and Choroidal Status in AMD Patients

Invest Ophthalmol Vis Sci. 2021 Apr 1;62(4):30. doi: 10.1167/iovs.62.4.30.

Abstract

Purpose: We aimed to investigate the reactivity of retinal vessels to a flickering stimulus in patients with age-related macular degeneration (AMD) and healthy participants. We also assessed whether the parameters of retinal vessels are dependent on genetic predisposition.

Methods: A total of 354 patients with AMD and 121 controls were recruited for the study. All participants underwent thorough ophthalmologic examination and static and dynamic retinal vessel analysis. AMD risk polymorphisms were genotyped in the CFH and ARMS2 genes.

Results: We found no differences between the AMD group and controls in central retinal arteriolar equivalent (CRAE), central retinal venular equivalent (CRVE), arteriovenous ratio (AVR), dynamic analysis of arteries (DAAs), or dynamic analysis of veins (DAVs). Eyes with early AMD presented with significantly higher AVR values than eyes with late AMD. In the AMD group, DAA correlated positively with both choroidal thickness (Rs = 0.14, P = 0.00096) and choroidal volume (Rs = 0.23, P < 0.0001), and no such associations were observed in the controls. We found significantly lower DAA (1.47 ± 1.50) in TT homozygotes for the ARMS2 A69S polymorphism in comparison with GG homozygotes (2.38 ± 1.79) and patients with GG + GT genotypes (2.28 ± 1.84). We also observed less prominent DAV (3.24 ± 1.71) in patients with TC + CC genotypes in the CFH Y402H polymorphism compared with TT homozygotes (3.83 ± 1.68).

Conclusions: Our findings suggest that retinal microcirculation appears to be associated with the genetic background, choroidal parameters, and clinical features of the patients with AMD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Choroid / pathology*
  • Complement Factor H / genetics
  • Complement Factor H / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Macular Degeneration / physiopathology
  • Male
  • Polymorphism, Single Nucleotide*
  • Proteins / genetics*
  • Proteins / metabolism
  • Retinal Vessels / pathology
  • Retinal Vessels / physiopathology*
  • Tomography, Optical Coherence / methods

Substances

  • ARMS2 protein, human
  • CFH protein, human
  • Proteins
  • Complement Factor H