Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians

Front Biosci (Schol Ed). 2024 Feb 29;16(1):3. doi: 10.31083/j.fbs1601003.

Abstract

Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some evidence of pharmacogenetic influences on various treatment modalities used in AMD patients, including Age-Related Eye Disease Study (AREDS) supplements, photodynamic therapy (PDT), and anti-vascular endothelial growth factor (anti-VEGF) agents. However, there is currently no convincing evidence that genetic information plays a role in routine clinical care.

Keywords: Age-Related Eye Disease Study; age-related macular degeneration; geographic atrophy; neovascular AMD; pharmacogenetics.

Publication types

  • Review

MeSH terms

  • Dietary Supplements
  • High-Temperature Requirement A Serine Peptidase 1 / genetics
  • Humans
  • Macular Degeneration* / drug therapy
  • Macular Degeneration* / genetics
  • Polymorphism, Single Nucleotide
  • Proteins*
  • Risk Factors
  • Vascular Endothelial Growth Factors / genetics
  • Vascular Endothelial Growth Factors / therapeutic use

Substances

  • Proteins
  • High-Temperature Requirement A Serine Peptidase 1
  • Vascular Endothelial Growth Factors