Retinal Physician

JAN-FEB 2017

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Using Genetics to Guide AMD Therapy: Are We There Yet? BY JACLYN L. KOVACH, MD • INGRID U. SCOTT, MD, MPH A ge-related macu- lar degeneration is a leading cause of irreversible visual loss throughout the developed world. The etiol- ogy of AMD involves a complex interaction of inflammatory, oxidative, degenerative, and genetic components. The field of human genomics has fostered significant advancements in our knowledge of the genetic basis of AMD. 1 Recent developments in genetic testing have enabled ophthalmologists, optometrists, and even the consumer to order tests that assess AMD risk. Is there a role for genetic testing in AMD management? This article reviews the genetic basis of AMD, commercially available genetic tests for AMD, and the current evi- dence regarding the pharmacogenetics of AMD. 2,3 A M D GENETICS AMD is not a monogenic disease caused by a single gene defect, but a complex disease with numerous genetic and environmental risk factors. Environmental risk factors include age, smoking, dietary nutrients, exogenous estrogen use, and others. 4 The genetic com- ponent of AMD risk has been estimated at 70%. 5 To date, 34 genetic loci encompassing 52 gene variants have been associated with AMD; it has been estimated that these 52 variants collectively account for about half of the heritability of the disease. 1 Of the gene variants associated with AMD, the two most widely studied and important, due to their large effect sizes and relatively high frequencies in the population, are complement factor H (CFH) 6-9 and age-related maculopathy susceptibility 2 (ARMS2). 10,11 Most risk alleles are associated with both neovascu- lar AMD and geographic atrophy, but a variant near 16 R E T I N A L P H Y S I C I A N | J A N U A R Y / F E B R U A R Y 2 0 1 7 Ingrid U. Sco, MD, MPH, is professor of ophthalmology and public health sciences at Pennsylvania State College of Medicine, the Pennsyl- vania State University, Hershey, Pa. Jaclyn L. Kovach, MD is associate professor of ophthalmology at the Bascom Palmer Eye Institute Univer- sity of Miami Miller School of Medicine, Naples, FL. P E E R R E V I E W E D

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