Small, hard macular drusen and peripheral drusen: Associations with amd genotypes in the inter99 eye study

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 5, 2010, Pages 2317-2321

  Munch, Inger Christine ^a,b,c   Ek, Jakob ^d   Kessel, Line ^a   Sander, Birgit ^a   Almind, Gitte Juul ^c,d   Brondum Nielsen, Karen ^c,d   Linneberg, Allan ^b   Larsen, Michael ^a,c,d  

^a GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^b Research Center for Prevention and Health   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; ARMS2 PROTEIN, HUMAN; COMPLEMENT FACTOR H, HUMAN; PROTEIN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DRUSEN; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; GENETICS; MIDDLE AGED; PHENOTYPE; RANDOMIZED CONTROLLED TRIAL; RETINA MACULA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; FEMALE; GENOTYPE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RETINAL DRUSEN;

EID: 77952515555     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4482     Document Type: Article

References (34)

1. Sarks SH, Arnold JJ, Killingsworth MC, Sarks JP. Early drusen formation in the normal and aging eye and their relation to age related maculopathy: a clinicopathological study. Br J Ophthalmol. 1999;83:358-368.
2. Klein R, Klein BE, Linton KL. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology. 1992;99:933-943.
3. Bressler NM, Munoz B, Maguire MG, et al. Five-year incidence and disappearance of drusen and retinal pigment epithelial abnormalities: Waterman study. Arch Ophthalmol. 1995;113:301-308.
4. Klein R, Klein BE, Tomany SC, et al. Ten-year incidence and progression of age-related maculopathy: The Beaver Dam eye study. Ophthalmology. 2002;109:1767-1779.
5. Klein R, Klein BE, Knudtson MD, et al. Fifteen-year cumulative incidence of age-related macular degeneration: the Beaver Dam Eye Study. Ophthalmology. 2007;114:253-262.
6. Sarks JP, Sarks SH, Killingsworth MC. Evolution of soft drusen in age-related macular degeneration. Eye. 1994;8:269-283.
7. van Leeuwen R, Klaver CC, Vingerling JR, et al. The risk and natural course of age-related maculopathy: follow-up at 6 1/2 years in the Rotterdam study. Arch Ophthalmol. 2003;121:519-526.
8. Munch IC, Sander B, Kessel L, et al. Heredity of small hard drusen in twins aged 20-46 years. Invest Ophthalmol Vis Sci. 2007;48: 833-838.
9. Hammond CJ, Webster AR, Snieder H, et al. Genetic influence on early age-related maculopathy: a twin study. Ophthalmology. 2002;109:730-736.
10. Edwards AO, Ritter R, III, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
11. 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.
12. 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.
13. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308: 385-389.
14. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet. 2006;38:458-462.
15. 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.
16. Jorgensen T, Borch-Johnsen K, Thomsen TF, et al. A randomized non-pharmacological intervention study for prevention of ischaemic heart disease: baseline results Inter99 (1). Eur J Cardiovasc Prev Rehabil. 2003;10:377-386.
17. Kessel L, Hougaard JL, Mortensen C, et al. Visual acuity and refractive errors in a suburban Danish population: Inter99 Eye Study. Acta Ophthalmol Scand. 2004;82:19-24.
18. Klein R, Davis MD, Magli YL, et al. The Wisconsin age-related maculopathy grading system. Ophthalmology. 1991;98:1128-1134.
19. Definition, diagnosis and classification of diabetes mellitus and its complications. Report of a WHO Consultation, Part 1: Diagnosis and classification of diabetes mellitus. Geneva: World Health Organization; 1999, WHO/NCD/NCS/99.2.
20. Klein R, Klein BE, Tomany SC, Moss SE. Ten-year incidence of age-related maculopathy and smoking and drinking: the Beaver Dam Eye Study. Am J Epidemiol. 2002;156:589-598.
21. Jun G, Klein BE, Klein R, et al. Genome-wide analyses demonstrate novel loci that predispose to drusen formation. Invest Ophthalmol Vis Sci. 2005;46:3081-3088.
22. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005; 14:2257-2264.
23. Farwick A, Dasch B, Weber BH, et al. Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. Eye. 2009;23(12):2238-2244.
24. Despriet DD, Klaver CC, Witteman JC, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA. 2006;296:301-309.
25. Klein R, Knudtson MD, Klein BE, et al. Inflammation, complement factor h, and age-related macular degeneration: the Multi-ethnic Study of Atherosclerosis. Ophthalmology. 2008;115:1742-1749.
26. Xing C, Sivakumaran TA, Wang JJ, et al. Complement factor H polymorphisms, renal phenotypes and age-related macular degeneration: the Blue Mountains Eye Study. Genes Immun. 2008; 9:231-239.
27. Shuler RK Jr, Schmidt S, Gallins P, et al. Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration. Ophthalmology. 2008;115:520-524.
28. Droz I, Mantel I, Ambresin A, et al. Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism. Br J Ophthalmol. 2008;92:513-517.
29. Buch H, Nielsen NV, Vinding T, et al. 14-year incidence, progression, and visual morbidity of age-related maculopathy: the Copenhagen City Eye Study. Ophthalmology. 2005;112:787-798.
30. Sparrow JM, Dickinson AJ, Duke AM, et al. Seven year follow-up of age-related maculopathy in an elderly British population. Eye. 1997;11(Pt 3):315-324.
31. Seddon JM, Reynolds R, Maller J, et al. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009;50:2044-2055.
32. Kim IK, Ji F, Morrison MA, et al. Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Mol Vis. 2008;14:1487-1496.
33. Seddon JM, Reynolds R, Rosner B. Peripheral retinal drusen and reticular pigment: association with CFH Y402H and CFHrs1410996 genotypes in family and twin studies. Invest Ophthalmol Vis Sci. 2009;50:586-591.
34. Postel EA, Agarwal A, Schmidt S, et al. Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. Am J Ophthalmol. 2005;139:820-825.