Genetics and age-related macular degeneration: a practical review for the clinician
Stephen G Schwartz,1 Blake M Hampton,1 Jaclyn L Kovach,1 Milam A Brantley Jr2 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Ophthalmology, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashv...
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| Autores principales: | , , , |
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| Formato: | article |
| Lenguaje: | EN |
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Dove Medical Press
2016
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| Acceso en línea: | https://doaj.org/article/689fb8172d434b14b9b5b632914f0200 |
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| Sumario: | Stephen G Schwartz,1 Blake M Hampton,1 Jaclyn L Kovach,1 Milam A Brantley Jr2 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Ophthalmology, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Age-related macular degeneration is a complex disease, with both genetic and environmental risk factors interacting in unknown ways. Currently, 52 gene variants within 34 loci have been significantly associated with age-related macular degeneration. Two well-studied major genes are complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2). There exist several commercially available tests that are proposed to stratify patients into high-risk and low-risk groups, as well as predict response to nutritional supplementation. However, at present, the bulk of the available peer-reviewed evidence suggests that genetic testing is more useful as a research tool than for clinical management of patients. Keywords: age-related macular degeneration, age-related maculopathy susceptibility 2, ARMS2, complement factor H, CFH, pharmacogenetics, vascular endothelial growth factor |
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