DESCRIPTION
Age-related macular degeneration (AMD) is a complex disease involving both genetic and environmental (e.g., smoking) influences. Macular degeneration is the leading cause of severe vision loss in people older than age 60 and occurs when the central portion of the retina, the macula, deteriorates. AMD is divided into the dry form, associated with slowly progressive vision loss, and the wet form, which may be associated with rapidly progressive and severe vision loss.
Testing for mutations at certain genetic loci has been proposed to predict the risk of developing advanced AMD or to guide treatment. The clinical utility of genetic testing for AMD is currently limited. There are no preventive measures that can be undertaken outside of good health practices and no known association between specific genotypes and specific therapies.
POLICY
Genetic testing for macular degeneration is considered investigational.
IMPORTANT REMINDERS
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ADDITIONAL INFORMATION
There is insufficient evidence to determine an improvement in health outcomes in individuals identified as high-risk based on genetic testing.
SOURCES
American Academy of Ophthalmology. (2019). Age-related macular degeneration preferred practice pattern. Retrieved August 18, 2021 from http://www.aao.org.
American Society of Retina Specialists. (2017). The use of genetic testing in the management of patients with age-related macular degeneration: American Society of Retina Specialists genetics task force special report. Retrieved February 28, 2020 from https://www.asrs.org/content/documents/articleasrstaskforcereportjvrd117.pdf.
BlueCross BlueShield Association. Evidence Positioning System. (4:2023). Genetic testing for macular degeneration (2.04.103). Retrieved February 12, 2024 from www.bcbsaoca.com/eps/. (22 articles and/or guidelines reviewed)
Colijn, J. M., Meester-Smoor, M., Verzijden, T., de Breuk, A., Silva, R., et al. (2021). Genetic risk, lifestyle, and age-related macular degeneration in Europe: The EYE-RISK consortium. Ophthalmology, 128 (7), 1039–1049, doi: 10.1016/j.ophtha.2020.11.024. (Level 2 evidence)
Hagstrom, S., Ying, G., Maguire, M., Martin, D., Gibson, J., Lotery, A., & Chakravarthy, U. (2015). VEGFR2 gene polymorphisms and response to anti-VEGF therapy in age-related macular degeneration. Ophthalmology, 122 (8), 1563-1568. (Level 3 evidence)
Hagstrom, S., Ying, G., Pauer, G., Sturgill-Short, G., Huang, J., Maguire, M., & Martin, D. (2014). VEGF-A and VEGFR-2 gene polymorphisms and response to anti-VEGF therapy in the comparison of AMD treatments trials (CATT). JAMA Ophthalmology, 132 (5), 521-527. (Level 3 evidence)
Roshanipour, N., Shahriyari, E., Ghaffari Laleh, M., Vahedi, L., Mirjand Gerami, S., & Khamaneh, A. (2021). Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis. Ophthalmic Genetics, 21, 1-9. Epub ahead of print. Retrieved August 18, 2021 from PubMed database.
ORIGINAL EFFECTIVE DATE: 5/10/2014
MOST RECENT REVIEW DATE: 3/14/2024
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