Ophthalmology
Volume 117, Issue 8 , Pages 1554-1559.e1 , August 2010

Progression of Geographic Atrophy and Genotype in Age-Related Macular Degeneration

  • Michael L. Klein, MD

      Affiliations

    • Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, and Devers Eye Institute, Portland, Oregon
    • Corresponding Author InformationCorrespondence: Michael L. Klein, MD, Casey Eye Institute, 3375 SW Terwilliger Blvd., Portland, OR 97239
  • ,
  • Frederick L. Ferris III, MD

      Affiliations

    • National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland
  • ,
  • Peter J. Francis, MD, PhD

      Affiliations

    • Macular Degeneration Center, Casey Eye Institute, Oregon Health & Science University, and Devers Eye Institute, Portland, Oregon
  • ,
  • Anne S. Lindblad, PhD

      Affiliations

    • The EMMES Corporation, Rockville, Maryland
  • ,
  • Emily Y. Chew, MD

      Affiliations

    • National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland
  • ,
  • Sara C. Hamon, PhD

      Affiliations

    • Laboratory of Statistical Genetics, Rockefeller University, New York, New York
  • ,
  • Jurg Ott, PhD

      Affiliations

    • Laboratory of Statistical Genetics, Rockefeller University, New York, New York
    • Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China

Received 6 May 2009 ,Revised 8 December 2009 ,Accepted 8 December 2009.

References 

  1. Eye Diseases Prevalence Research Group. Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol. 2004;122:477–485
  2. Gunnlaugsdottir E, Arnarsson A, Jonasson F. Prevalence and causes of visual impairment and blindness in Icelanders aged 50 years and older: the Reykjavik Eye Study. Acta Ophthalmol. 2008;86:778–785
  3. Bunce C, Wormald R. Leading causes of certification for blindness and partial sight in England and Wales. BMC Public Health. 2006;6:58;[serial online] http://www.biomedcentral.com/1471-2458/6/58Accessed November 14, 2009
  4. Rosenfeld PJ, Brown DM, Heier JS, et al. MARINA Study Group Ranibizumab for neovascular age-related macular degeneration. N Engl J Med. 2006;355:1419–1431
  5. Avery RL, Pieramici DJ, Rabena MD, et al. Intravitreal bevacizumab (Avastin) for neovascular age-related macular degeneration. Ophthalmology. 2006;113:363–372
  6. Smith W, Assink J, Klein R, et al. Risk factors for age-related macular degeneration: pooled findings from three continents. Ophthalmology. 2001;108:697–704
  7. Eye Disease Case-Control Study Group. Risk factors for neovascular age-related macular degeneration. Arch Ophthalmol. 1992;110:1701–1708
  8. Tomany SC, Wang JJ, Van Leeuwen R, et al. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology. 2004;111:1280–1287
  9. Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol. 2004;137:486–495
  10. Complications of Age-related Macular Degeneration Prevention Trial (CAPT) Research Group. Risk factors for choroidal neovascularization and geographic atrophy in the Complications of Age-Related Macular Degeneration Prevention Trial. Ophthalmology. 2008;115:1474–1479
  11. Age-Related Eye Disease Study Research Group. Risk factors associated with age-related macular degeneration: a case-control study in the Age-Related Eye Disease Study: Age-Related Eye Disease Study report number 3. Ophthalmology. 2000;107:2224–2232
  12. Holz FG, Bindewald-Wittich A, Fleckenstein M, et al. Fam-Study Group Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration. Am J Ophthalmol. 2007;143:463–472
  13. Age-Related Eye Disease Study Research Group. A simplified severity scale for age-related macular degeneration: AREDS report no. 18. Arch Ophthalmol. 2005;123:1570–1574
  14. Assink JJ, Klaver CC, Houwing-Duistermaat JJ, et al. Heterogeneity of the genetic risk in age-related macular disease: a population-based familial risk study. Ophthalmology. 2005;112:482–487
  15. Klaver CC, Wolfs RC, Assink JJ, et al. Genetic risk of age-related maculopathy: population-based familial aggregation study. Arch Ophthalmol. 1998;116:1646–1651
  16. Luo L, Harmon J, Yang X, et al. Familial aggregation of age-related macular degeneration in the Utah population. Vision Res. 2008;48:494–500
  17. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A. 2005;102:7227–7232
  18. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385–389
  19. Edwards AO, Ritter R, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421–424
  20. 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
  21. Jakobsdottir J, Conley YP, Weeks DE, et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389–407
  22. Francis PJ, Zhang H, Dewan A, et al. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vis. 2008;14:1395–1400[serial online] http://www.molvis.org/molvis/v14/a168/Accessed November 14, 2009
  23. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005;14:3227–3236
  24. Schmidt S, Hauser MA, Scott WK, et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet. 2006;78:852–864
  25. Kanda A, Chen W, Othman M, et al. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A. 2007;104:16227–16232
  26. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989–992
  27. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992–993
  28. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006;38:458–462
  29. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007;357:553–561
  30. Yang Z, Stratton C, Francis P, et al. Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med. 2008;359:1456–1463
  31. Allikmets R, Bergen A, Dean M, et al. Geographic atrophy in age-related macular degeneration and TLR3 [letter]. N Engl J Med. 2009;360:2252–2254
  32. Seddon JM, Francis PJ, George S, et al. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007;297:1793–1800
  33. Age-Related Eye Disease Study Research Group. The Age-Related Eye Disease Study (AREDS): design implications (AREDS report no. 1). Control Clin Trials. 1999;20:573–600
  34. Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol. 2001;119:1417–1436
  35. AREDS Research Group. Change in area of geographic atrophy in the Age-Related Eye Disease Study: AREDS report number 26. Arch Ophthalmol. 2009;127:1168–1174
  36. Fritsche LG, Loenhardt T, Janssen A, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40:892–896
  37. Schatz H, McDonald HR. Atrophic macular degeneration: rate of spread of geographic atrophy and visual loss. Ophthalmology. 1989;96:1541–1551
  38. Sunness JS. The natural history of geographic atrophy, the advanced atrophic form of age-related macular degeneration. Mol Vis. 1999;5:25;[serial online] http://www.molvis.org/molvis/v5/a25/Accessed November 14, 2009
  39. Sunness JS, Gonzalez-Baron J, Applegate CA, et al. Enlargement of atrophy and visual acuity loss in the geographic atrophy form of age-related macular degeneration. Ophthalmology. 1999;106:1768–1779
  40. Klein R, Meuer SM, Knudtson MD, Klein BE. The epidemiology of progression of pure geographic atrophy: the Beaver Dam Eye Study. Am J Ophthalmol. 2008;146:692–699
  41. Scholl HP, Fleckenstein M, Fritsche LG, et al. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS One. 2009;4:e7418;http://www.plosone.org/article/info:doi/10.1371/journal.pone.0007418Accessed December 7, 2009
  42. Edwards AO, Chen D, Fridley BL, et al. Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49:1652–1659
  43. Cameron DJ, Yang Z, Gibbs D, et al. HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cell Cycle. 2007;6:1122–1125
  44. Francis PJ, George S, Schultz DW, et al. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2007;63:212–218
  45. Allikmets R, Dean M. Bringing age-related macular degeneration into focus. Nat Genet. 2008;40:820–821

 Manuscript no. 2009-605.

 Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article.

 Supported by contracts and grants from the National Eye Institute, National Institutes of Health, Bethesda, Maryland, R01-EY12203 (MLK), China NSFC grant 30730057 (JO), grants to the Casey Eye Institute, Oregon Health & Science University from Research to Prevent Blindness, New York, New York (PJF, MLK), the Foundation Fighting Blindness, Owings Mills, Maryland (PJF), and the Casey Eye Institute Macular Degeneration Fund (MLK and PJF). The authors have no proprietary interest in any materials or products discussed herein. No authors have any financial/conflicting interests to disclose.

PII: S0161-6420(09)01416-X

doi: 10.1016/j.ophtha.2009.12.012

Ophthalmology
Volume 117, Issue 8 , Pages 1554-1559.e1 , August 2010