Retinal Physician

JAN-FEB 2017

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20 R E T I N A L P H Y S I C I A N . C O M | J A N U A R Y / F E B R U A R Y 2 0 1 7 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 20 age-related macular degeneration: a practical review for the clinician. Clin Ophthalmol. 2016;10:1229-1235. 4. Clemons TE, Milton RC, Klein R, Seddon JM, Ferris FL 3rd; Age-Related Eye Disease Study Research Group. Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study (AREDS): AREDS report no. 19. Ophthalmology. 2005;112:533-539. 5. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol. 2005;123:321-327. 6. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389. 7. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421. 8. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degen- eration. Science. 2005;308:421-424. 9. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulator factor H (HF1/CFH) predisposes individu- als to age-related macular degeneration. Proc Natl Acad Sci U S A. 2005;102:7227-7232. 10. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389-407. 11. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene in- creases susceptibility to age-related macular degeneration. Science. 2006;314:992-993. 12. Burke W, Atkins D, Gwinn M, et al. Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol. 2002;156:311-318. 13. Janssens AC, Moonesinghe R, Yang Q, Steyerberg EW, van Duijn CM, Khoury MJ. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med. 2007;9:528-535. 14. Ying GS, Maguire MG, Complications of Age-Related Macular Degen- eration Prevention Trial Research Group. Development of a risk score for geographic atrophy in Complications of the Age-Related Macular Degeneration Prevention Trial. Ophthalmology. 2011;118:332-338. 15. Chiu CJ, Mitchell P, Klein R, et al. A risk score for the prediction of ad- vanced age-related macular degeneration: development and validation in 2 prospective cohorts. Ophthalmology. 2014;121:1421-1427. 16. Hageman GS, Gehrs K, Lejnine S, et al. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age- related macular degeneration. Hum Genomics. 2011;5:420-440. 17. Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH. Model- ling the genetic risk in age-related macular degeneration. PLoS One. 2012;7:e37979. 18. Klein ML, Francis PJ, Ferris FL III, Hamon SC, Clemons TE. Risk as- sessment model for development of advanced age-related macular degeneration. Arch Ophthalmol. 2011;129:1543-1550. 19. Spencer KL, Olson LM, Schnetz-Boutaud N, et al. Using genetic varia- tion and environmental risk factor data to identify individuals at high risk for age-related macular degeneration. PLoS One. 2011;6:e17784. 20. Chen Y, Zeng J, Zhao C, et al. Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors. Arch Ophthalmol. 2011;129:344-351. 21. Seddon JM, Reynolds R, Yu Y, Daly MJ, Rosner B. Risk models for progression to advanced age-related macular degeneration using de- mographic, environmental, genetic, and ocular factors. Ophthalmology. 2011;118:2203-2211. 22. Seddon JM, Reynolds R, Yu Y, Rosner B. Validation of a prediction algorithm for progression to advanced macular degeneration subtypes. JAMA Ophthalmol. 2013;131:448-455. 23. Buitendijk GH, Rochtchina E, Myers C, et al. Prediction of age-related macular degeneration in the general population: The Three Continent AMD Consortium. Ophthalmology. 2013;120:2644-2655. 24. Seddon JM, Silver RE, Kwong M, Rosner B. Risk prediction for progres- sion of macular degeneration: 10 common and rare genetic variants, demographic, environmental, and macular covariates. Invest Ophthal- mol Vis Sci. 2015;56:2192-2202. 25. Yu Y, Reynolds R, Rosner B, Daly MJ, Seddon JM. Prospective assess- ment of genetic effects on progression to different stages of age- related macular degeneration using multistate Markov models. Invest Ophthalmol Vis Sci. 2012;53:1548-1556. 26. Stone EM, Aldave AJ, Drack AV, et al. Recommendations of the Ameri- can Academy of Ophthalmology task force on genetic testing. Available at: http://www.aao.org/clinical-statement/recommendations-genetic- testing-of-inherited-eye-d. 27. Kovach JL, Schwartz SG, Flynn HW Jr, Scott IU. Anti-VEGF treatment strategies for wet AMD. J Ophthalmol. 2012;2012:786870. 28. Age-Related Eye Disease Study Group. A randomized, placebo-con- trolled, clinical trial of high-dose supplementation with vitamins C and E, beta-carotene, and zinc for age-related macular degeneration and vi- sion loss: AREDS report no. 8. Arch Ophthalmol. 2001;119:1417-1436. 29. Age-Related Eye Disease Study 2 Research Group. Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration: the Age-Related Eye Disease Study 2 (AREDS2) randomized clinical trial. JAMA. 2013;309:2005-2015. 30. Schwartz SG, Brantley MA Jr. Pharmacogenetics and age-related macu- lar degeneration. J Ophthalmol. 2011;2011:252549. 31. Hagstrom SA, Ying GS, Pauer GJ, et al. Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT). Ophthalmology. 2013;120:593-599. 32. Hagstrom SA, Ying GS, Pauer GJ, Huang J, Maguire MG, Martin DF; CATT Research Group. Endothelial PAS domain-containing protein 1 (EPAS1) gene polymorphisms and response to anti-VEGF therapy in the Comparison of AMD Treatments Trials (CATT). Ophthalmology. 2014;121:1663-1664. 33. Hagstrom SA, Ying GS, Pauer GJ, et al. VEGFA and VEGFR2 gene polymorphisms and response to anti-vascular endothelial growth factor therapy: Comparison of Age-Related Macular Degeneration Treatments Trials (CATT). JAMA Ophthalmol. 2014;132:521-527. 34. Lotery AJ, Gibson J, Cree AJ, et al. Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study. Ophthalmology. 2013;120:2637-2643. 35. Hagstrom SA, Ying GS, Maguire MG, et al. VEGFR2 polymorphisms and response to anti-vascular endothelial growth factor therapy in age- related macular degeneration. Ophthalmology. 2015;122:1563-1568. 36. Hong N, Shen Y, Yu CY, Wang SQ, Tong JP. Association of the polymor- phism Y402H in the CFH gene with response to anti-VEGF treatment in age-related macular degeneration: a systematic review and meta- analysis. Acta Ophthalmol. 2016;94:334-345. 37. Hampton BM, Kovach JL, Schwartz SG. Pharmacogenetics and nutritional supplementation in age-related macular degeneration. Clin Ophthalmol. 2015;9:873-876. 38. Klein ML, Francis PJ, Rosner B, et al. CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology. 2008;115:1019-1025. 39. Awh CC, Lane AM, Hawken S, Zanke B, Kim IK. CFH and ARMS2 genetic polymorphisms predict response to antioxidants plus zinc in patients with age-related macular degeneration. Ophthalmology. 2013;120:2317-2323. 40. Chew EY, Klein ML, Clemons TE, et al. No clinically significant as- sociation between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38. Ophthalmology. 2014;121:2173-2180. 41. Awh CC, Hawken S, Zanke BW. Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the Age- Related Eye Disease Study. Ophthalmology. 2015;122:162-169. 42. Chew EY, Klein ML, Clemons TE, Agron E, Abecasis GR. Genetic test- ing in persons with age-related macular degeneration and the use of the AREDS supplements: to test or not to test? Ophthalmology. 2015;122:212-215. 43. Wittes J, Musch DC. Should we test for genotype in deciding on age-related eye disease study supplementation? Ophthalmology. 2015;122:3-5. ELIMINATE 44. Seddon JM, Silver RE, Rosner B. Response to AREDS supplements ac- cording to genetic factors: survival analysis approach using the eye as the unit of analysis. Br J Ophthalmol. 2016;1:1-7. 45. Stone EM. Genetic testing for age-related macular degeneration: not indicated now. JAMA Ophthalmol. 2015;133:598-600. P E E R R E V I E W E D

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