Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

Retina

Volumn 35, Issue 1, 2015, Pages 48-57

  Sohn, Elliott H ^a,b   Wang, Kai ^a   Thompson, Stewart ^a,b   Riker, Megan J ^a,b   Hoffmann, Jeremy M ^a,b   Stone, Edwin M ^a,b   Mullins, Robert F ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

age related macular degeneration; ARMS2; autosomal dominant radial drusen; CFH; drusen; extracellular matrix; genetics; histology; modifying genes

Indexed keywords

AMYLOID P COMPONENT; COLLAGEN TYPE 4; COMPLEMENT FACTOR H; COMPLEMENT MEMBRANE ATTACK COMPLEX; SCLEROPROTEIN; VITRONECTIN; ARMS2 PROTEIN, HUMAN; EFEMP1 PROTEIN, HUMAN; HTRA1 PROTEIN, HUMAN; PROTEIN; SERINE PROTEINASE; SERUM AMYLOID P;

ADULT; AGE RELATED MACULAR DEGENERATION; AGED; ALLELE; ANTIBODY LABELING; ARMS2 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RADIAL DRUSEN; CHF GENE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; DONOR; DRUSEN; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HTRA1 GENE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MODIFIER GENE; MORPHOLOGY; PHENOTYPE; YOUNG ADULT; CONGENITAL CORNEA DYSTROPHY; GENETICS; GENOTYPING TECHNIQUE; METABOLISM; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; WET MACULAR DEGENERATION;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; COLLAGEN TYPE IV; COMPLEMENT FACTOR H; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENOTYPING TECHNIQUES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RETINAL DRUSEN; SERINE ENDOPEPTIDASES; SERUM AMYLOID P-COMPONENT; TISSUE DONORS; VITRONECTIN; WET MACULAR DEGENERATION; YOUNG ADULT;

EID: 84920288751     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0000000000000263     Document Type: Article

References (39)

1. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. Surv Ophthalmol 1995; 39:367-374.
2. Sohn EH, Mullins RF, Stone EM. Macular dystrophies. In: Ryan SJ, ed. Retina. New York, NY: Elsevier; 2012:852-890.
3. Anderson DH, Mullins RF, Hageman GS, Johnson LV. A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol 2002;134:411-431.
4. Mullins RF, Russell SR, Anderson DH, Hageman GS. Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB J 2000;14:835-846.
5. Wang L, Clark ME, Crossman DK, et al. Abundant lipid and protein components of drusen. PLoS One 2010;5:e10329.
6. Edwards AO, Ritter R, Abel KJ, et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005;308:421-424.
7. 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.
8. 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.
9. Mullins RF, Johnson MN, Faidley EA, et al. Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration. Invest Ophthalmol Vis Sci 2011;52:1606-1612.
10. Lengyel I, Tufail A, Hosaini HA, et al. Association of drusen deposition with choroidal intercapillary pillars in the aging human eye. Invest Ophthalmol Vis Sci 2004;45:2886-2892.
11. Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999;22:199-202.
12. Michaelides M, Jenkins SA, Brantley MA, et al. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction. Invest Ophthalmol Vis Sci 2006;47:3085-3097.
13. Sohn EH, Patel PJ, MacLaren RE, et al. Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy. Arch Ophthalmol 2011;129:1626-1628.
14. Marmorstein LY, Munier FL, Arsenijevic Y, et al. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci U S A 2002;99:13067-13072.
15. Lenassi E, Troeger E, Wilke R, et al. Laser clearance of drusen deposit in patients with autosomal dominant drusen (p. Arg345Trp in EFEMP1). Am J Ophthalmol 2013;155:190-198.
16. Parodi MB, Virgili G, Evans JR. Laser treatment of drusen to prevent progression to advanced age-related macular degeneration. Cochrane Database Syst Rev 2009;(3):CD006537.
17. Complications of Age-Related Macular Degeneration Prevention Trial Research Group. Laser treatment in patients with bilateral large drusen: the complications of age-related macular degeneration prevention trial. Ophthalmology 2006;113: 1974-1986.
18. 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.
19. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005;308:385-389.
20. 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.
21. 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.
22. Kortvely E, Hauck SM, Duetsch G, et al. ARMS2 is a constituent of the extracellular matrix providing a link between familial and Sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 2010;51:79-88.
23. Klein R, Myers CE, Meuer SM, et al. Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: the Beaver Dam Eye Study. JAMA Ophthalmol 2013;131:383-392.
24. Barthel LK, Raymond PA. Improved method for obtaining 3-microns cryosections for immunocytochemistry. J Histochem Cytochem 1990;38:1383-1388.
25. Hageman GS, Mullins RF, Russell SR, et al. Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells. FASEB J 1999;13:477-484. Available at: http://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=10064614&retmode=ref&cmd=prlinks.
26. Garland DL, Fernandez-Godino R, Kaur I, et al. Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet 2013;23:52-68.
27. Wyatt MK, Tsai J-Y, Mishra S, et al. Interaction of complement factor h and fibulin3 in age-related macular degeneration. PLoS One 2013;8:e68088.
28. Chen L, Miyamura N, Ninomiya Y, Handa JT. Distribution of the collagen IV isoforms in human Bruch's membrane. Br J Ophthalmol 2003;87:212-215.
29. Newsome DA, Pfeffer BA, Hewitt AT, et al. Detection of extracellular matrix molecules synthesized in vitro by monkey and human retinal pigment epithelium: influence of donor age and multiple passages. Exp Eye Res 1988;46:305-321.
30. Curcio CA, Johnson M. Structure, function, and pathology of Bruch's membrane. In: Hinton DR, Sadda SR, Schachat AP, et al, eds. New York, NY: Elsevier Health Sciences; 2012.
31. Campochiaro PA, Jerdon JA, Glaser BM. The extracellular matrix of human retinal pigment epithelial cells in vivo and its synthesis in vitro. Invest Ophthalmol Vis Sci 1986;27: 1615-1621.
32. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000;97:6001-6006.
33. Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223-227.
34. Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25:228-231.
35. Fawzi AA, Lee NG, Eliott D, et al. Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum. Br J Ophthalmol 2009;93:1606-1611.
36. Weber BH, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-356.
37. Roybal CN, Marmorstein LY, Vander Jagt DL, Abcouwer SF. Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression. Invest Ophthalmol Vis Sci 2005;46: 3973-3979.
38. Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. J Biol Chem 2004;279:30469-30473.
39. Vierkotten S, Muether PS, Fauser S. Overexpression of HTRA1 leads to ultrastructural changes in the elastic layer of Bruch's membrane via cleavage of extracellular matrix components. PLoS One 2011;6:e22959.