Age-related macular degeneration (AMD) is a complex disease involving both genetic and environmental (e.g., smoking) influences. Macular degeneration, the leading cause of severe vision loss in people older than age 60 years, 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 limited as there are currently no preventive measures that can be undertaken, outside of good health practices, nor is there a known association with specific genotypes and specific therapies.
Genetic testing for macular degeneration is considered investigational.
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More than 25 genes have been reported to influence the risk of developing AMD. Commercially available genetic testing for AMD is aimed at identifying those individuals who are at risk of developing advanced AMD. The clinical utility of genetic testing for AMD is limited in that there are currently no preventive measures that can be undertaken, outside of good health practices, nor is there a known association with specific genotypes and specific therapies. Therefore, genetic testing for AMD is considered investigational.
American Academy of Ophthalmology. (February 2014). Recommendations of the American academy of ophthalmology task force on genetic testing. Retrieved August 6, 2015 from: http://www.aao.org/clinical-statement/recommendations-genetic-testing-of-inherited-eye-d.
BlueShield Association. Medical Policy Reference Manual. (3:2017). Genetic testing for macular degeneration (2.04.103). Retrieved May 19, 2017 from BlueWeb. (16 articles and/or guidelines reviewed)
Fritsche, L., Fariss R., Stambolian, D., Abecasis, C., Curcio, C., & Swaroop, A. (2014) Age-related macular degeneration: Genetics and biology coming together. Annual Review Genomics & Human Genetics. 2014; 15: 151-171. (Level 1 evidence)
Hong, N., Shen, Y., Yu, C., Wand,S., and Tong, J. (2016, June) Association of the polymorphism Y402H in the CFH gene with response to anti-VEGF treatment in age-related macular degeneration: a systematic review and meta-analysis. Acta Opthalmologica; 94(4):334-45. Abstract retrieved May 19, 2017 from PubMed database.
Restrepo, N., Spencer, K., Goodloe, R., Garrett, T., Heiss, G., Buzkova, P., et al. (October 2014). Genetic Determinants of Age-Related Macular Degeneration in Diverse Populations from the PAGE Study. Investigative Ophthalmology & Visual Sciences, 55, (10), 6839-6850.(Level 2 evidence)
Stone, E. M. (2015). Genetic testing for age-related macular degeneration: not indicated now. JAMA Ophthalmology, 133 (5), 598-600. Abstract retrieved June 23, 2016 from PubMed.
Weber, B. H., Issa, P. C., Pauly, D., Herrmann, P., Grassmann, F., & Holz, F. G. (2014). The role of the complement system in age-related macular degeneration. Deutsches Arzteblatt International, 111 (8), 133-138. (Level 1 evidence)
Winifred S. Hayes, Inc. GTE Overview. (September 2014). Macula Risk PGx for age-related macular degeneration. Retrieved August 6, 2015 from www.Hayesinc.com/subscribers (11 abstracts reviewed)Winifred S. Hayes, Inc. Medical Technology Directory. (2012, June; last update search June 2015). Complement Factor H (CFH) p.Tyr402His and age-related maculopathy susceptibility 2 (ARMS2) p.Ala69Ser polymorphism testing for susceptibility to age-related macular degeneration (AMD). Retrieved May 19, 2017 from www.Hayesinc.com/subscribers (106 articles and/or guidelines reviewed)
ORIGINAL EFFECTIVE DATE: 5/10/2014
MOST RECENT REVIEW DATE: 7/13/2017
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