IMR Press / FBS / Volume 16 / Issue 1 / DOI: 10.31083/j.fbs1601003
Open Access Review
Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians
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1 Department of Ophthalmology and Visual Sciences, Rutgers New Jersey Medical School, Newark, NJ 07103, USA
2 Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USA
3 Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA
*Correspondence: (Stephen G Schwartz)
Front. Biosci. (Schol Ed) 2024, 16(1), 3;
Submitted: 8 November 2023 | Revised: 25 January 2024 | Accepted: 1 February 2024 | Published: 29 February 2024
Copyright: © 2024 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

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.

age-related macular degeneration
Age-Related Eye Disease Study
geographic atrophy
neovascular AMD
P30EY014801/NIH Core Center
GR004596-1/Research to Prevent Blindness-Unrestricted
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