Genetics and age-related macular degeneration: a practical review for the clinician.

Autor: Schwartz SG; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Hampton BM; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Kovach JL; Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Brantley MA Jr; Department of Ophthalmology, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Jazyk: angličtina
Zdroj: Clinical ophthalmology (Auckland, N.Z.) [Clin Ophthalmol] 2016 Jul 04; Vol. 10, pp. 1229-35. Date of Electronic Publication: 2016 Jul 04 (Print Publication: 2016).
DOI: 10.2147/OPTH.S109723
Abstrakt: 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.
Databáze: MEDLINE