Macular degeneration associated with age. Part I: epidemiology, pathogenesis, genetics aspects and prevention
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Published:
Dec 31, 2014
Keywords:
age-related macular degeneration, macula, retinal diseases
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Abstract
Macular degeneration associated with age is a leading cause of central vision loss. The disease process involves macular region of the retina and in the course of disease progression leads to a significant deterioration of visual acuity and thus and quality of life. The patient loses the opportunity to practice their profession yet, reading, watching TV or driving. This condition is significantly associated with aging and degeneration of tissues usually occurs after age of 50 years. Only a few years ago, introduced for the treatment of pharmaceuticals and other therapeutic approaches which substantially improved the prognosis for the behavior of the useful field of vision. The breakthrough discovery was clinically confirmed inhibition endothelial growth factor, causing neovascularization, which resulted in the lack of growth of abnormal vessels and as a result protect not only against the decrease in visual acuity, but even this function improved. It was a real revolution in ophthalmology, which gave patients hope for a full recovery. Is the cure possible? Is it only for a short time the disease does not progress? Spend that knowledge about the genetic basis, pathophysiology, possible use of new drugs and the use of all methods of treatment including surgery used in the appropriate stage of development of the disease we are getting closer to achieving therapeutic success. But this success is to stop disease progression and not a complete cure of the full recovery of visual acuity.
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Jarmak A. Macular degeneration associated with age. Part I: epidemiology, pathogenesis, genetics aspects and prevention. Ophthatherapy [Internet]. 2014Dec.31 [cited 2024Nov.22];1(4):221-30. Available from: https://journalsmededu.pl/index.php/ophthatherapy/article/view/693
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References
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2. Friedman DS, O’Colmain BJ, Muñoz B et al.; Eye Diseases Prevalence Research Group: Prevalence of age related macular degeneration in the United States. Arch Ophthalmol. 2004; 122(4): 564-72.
3. Augood CA, Vingerling JR, de Jong PT et al. Prevalence of age-related maculopathy in older Europeans: the European Eye Study (EUREYE). Arch Ophthalmol. 2006; 124(4): 529-35.
4. Cunha-Vaz JG. The blood-retinal barriers system. Basic concepts and clinical evaluation. Exp Eye Res. 2004; 78(3): 715-21.
5. Rizzolo LJ. Development and role of tight junctions in the retinal pigment epithelium. Int Rev Cytol. 2007; 258: 195-234.
6. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006; 355(14): 1474-85.
7. Ramrattan RS, van der Schaft TL, Mooy CM et al. Morphometric analysis of Bruch’s membrane, the choriocapillaris, and the choroid in aging. Invest Ophthalmol Vis Sci. 1994; 35(6): 2857-64.
8. Starita C, Hussain AA, Pagliarini S et al. Hydrodynamics of ageing Bruch’s membrane: implications for macular disease. Exp Eye Res. 1996; 62(5): 565-72.
9. Gilmore AP. Anoikis. Cell Death Differ. 2005; 12(suppl. 2): 1473-7.
10. Guymer RH, Bird AC, Hageman GS. Cytoarchitecture of choroidal capillary endothelial cells. Invest Ophthalmol Vis Sci. 2004; 45(6): 1660-6.
11. Feeney L. Lipofuscin and melanin of human retinal pigment epithelium. Fluorescence, enzyme cytochemical, and ultrastructural studies. Invest Ophthalmol Vis Sci. 1978; 17(7): 583-600.
12. Sparrow JR, Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res. 2005; 80(5): 595-606.
13. Coleman HR, Chan CC, Ferris FL et al. Age-related macular degeneration. Lancet. 2008; 372(9652): 1835-45.
14. Ding X, Patel M, Chan CC. Molecular pathology of age-related macular degeneration. Prog Retin Eye Res. 2009; 28(1): 1-18.
15. Wang J, Ohno-Matsui K, Yoshida T et al. Amyloid-beta up-regulates complement factor B in retinal pigment epithelial cells through cytokines released from recruited macrophages/microglia: Another mechanism of complement activation in age-related macular degeneration. J Cell Physiol. 2009; 220(1): 119-28.
16. Klein R, Klein BE, Jensen SC et al. The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology. 1997; 104(1): 7-21.
17. McLeod DS, Taomoto M, Otsuji T et al. Quantifying changes in RPE and choroidal vasculature in eyes with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2002; 43(6): 1986-93.
18. Grossniklaus HE, Green WR. Choroidal neovascularization. Am J Ophthalmol. 2004; 137(3): 496-503.
19. Penfold PL, Madigan MC, Gillies MC et al. Immunological and aetiological aspects of macular degeneration. Prog Retin Eye Res. 2001; 20 (3): 385-414.
20. Chen J, Connor KM, Smith LE. Overstaying their welcome: defective CX3CR1 microglia eyed in macular degeneration. J Clin Invest. 2007; 117(10): 2758-62.
21. Kim SY, Sadda S, Pearlman J et al. Morphometric analysis of the macula in eyes with disciform age-related macular degeneration. Retina. 2002; 22(4): 471-7.
22. Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005; 308(5720): 385-9.
23. Yang Z, Camp NJ, Sun H et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006; 314(5801): 992-3.
24. Allikmets R, Dean M. Bringing age-related macular degeneration into focus. Nat Genet. 2008; 40(7): 820-1.
25. 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(16): 1793-800.
26. Luo L, Harmon J, Yang X et al. Familial aggregation of age-related macular degeneration in the Utah population. Vision Res. 2008; 48(3): 494-500.
27. Fisher SA, Abecasis GR, Yashar BM et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005; 14(15): 2257-64.
28. Donoso LA, Kim D, Frost A et al. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol. 2006; 51(2): 137-52.
29. Tuo J, Bojanowski CM, Chan CC. Genetic factors of age-related macular degeneration. Prog Retin Eye Res. 2004; 23(2): 229-49.
30. Johnson PT, Betts KE, Radeke MJ et al. Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci USA. 2006; 103(46): 17456-61.
31. Tuo J, Ning B, Bojanowski CM et al. Synergic effect of polymorphisms in ERCC6 5’ flanking region and complement factor H on age-related macular degeneration predisposition. Proc Natl Acad Sci USA. 2006; 103(24): 9256-61.
32. Chen LJ, Liu DT, Tam PO et al. Association of complement factor H polymorphisms with exudative age related macular degeneration. Mol Vis. 2006; 12: 1536-42.
33. Zareparsi S, Branham KE, Li M. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005; 77(1): 149-53.
34. Thakkinstian A, Han P, McEvoy M et al. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006; 15(18): 2784-90.
35. Hageman GS, Hancox LS, Taiber AJ et al.; AMD Clinical Study Group. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med. 2006; 38(8): 592-604.
36. Gold B, Merriam JE, Zernant J et al.; AMD Genetics Clinical Study Group. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006; 38(4): 458-62.
37. Nozaki M, Raisler BJ, Sakurai E et al. Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci USA. 2006; 103(7): 2328-33.
38. Despriet DD, van Duijn CM, Oostra BA. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009; 116(3): 474-80.e2.
39. Majewski J, Schultz DW, Weleber RG et al. Age-related macular degeneration – a genome scan in extended families. Am J Hum Genet. 2003; 73(3): 540-50.
40. Weeks DE, Conley YP, Tsai HJ et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004; 75(2): 174-89.
41. Jakobsdottir J, Conley YP, Weeks DE et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005; 77(3): 389-407.
42. Allikmets R, Dean M. Bringing age-related macular degeneration into focus. Nat Genet. 2008; 40(7): 820-1.
43. Wang JJ, Ross RJ, Tuo J et al. The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study. Ophthalmology. 2008; 115(4): 693-9.
44. Oka C, Tsujimoto R, Kajikawa M et al. HtrA1 serine protease inhibits signaling mediated by TGF β family proteins. Development. 2004; 131(5): 1041-53.
45. Launay S, Maubert E, Lebeurrier N et al. HtrA1-dependent proteolysis of TGF-beta controls both neuronal maturation and developmental survival. Cell Death Differ. 2008; 15(9): 1408-16.
46. Tam PO, Ng TK, Liu DT et al. HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Invest Ophthalmol Vis Sci. 2008; 49(6): 2357-65.
47. Deangelis MM, Ji F, Adams S et al. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology. 2008; 115(7): 1209-15.e7.
48. Fritsche LG, Loenhardt T, Janssen A et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008; 40(7): 892-6.
49. Barreau C, Paillard L, Osborne HB. AU-rich elements and associated factors: are there unifying principles? Nucleic Acids Res. 2006; 33(22): 7138-50.
50. Khabar KS. The AU-rich transcriptome: more than interferons and cytokines, and its role in disease. J Interferon Cytokine Res. 2005; 25(1): 1-10.
51. Ding X, Patel M, Chan CC. Molecular pathology of age-related macular degeneration. Prog Retin Eye Res. 2009; 28(1): 1-18.
52. Schmidt S, Klaver C, Saunders A. A pooled case-control study of the apolipoprotein E (APOE) gene in age- related maculopathy. Ophthalmic Genet. 2002; 23(4): 209-23.
53. Baird PN, Richardson AJ, Robman LD et al. Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mutat. 2006; 27(4): 337-42.
54. Zareparsi S, Reddick AC, Branham KE et al. Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci. 2004; 45(5): 1306-10.
55. 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(6): 1019-25.
56. Brantley MA Jr., Fang AM, King JM. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology. 2007; 114(12): 2168-73.
57. Goverdhan SV, Hannan S, Newsom RB. An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment. Eye (London). 2008; 22(6): 849-54.
58. Brantley MA Jr., Edelstein SL, King JM et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye (London). 2009; 23(3): 626-31.
59. Hogg RE, Chakravarthy U. Visual function and dysfunction in early and late age-related maculopathy. Prog Retin Eye Res. 2006; 25(3): 249-76.
60. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006; 355(14): 1474-85.
61. Andreoli CM, Miller JW. Anti-vascular endothelial growth factor therapy for ocular neovascular disease. Curr Opin Ophthalmol. 2007; 18(6): 502-8.
62. Semenza GL. Vasculogenesis, angiogenesis, and arteriogenesis: mechanisms of blood vessel formation and remodeling. J Cell Biochem. 2007; 102(4): 840-7.
63. 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(16): 1793-800.
64. Grossniklaus HE, Green WR. Choroidal neovascularization. Am J Ophthalmol. 2004; 137(3): 496-503.
65. Yannuzzi LA, Freund KB, Takahashi BS. Review of retinal angiomatous proliferation or type 3 neovascularization. Retina. 2008; 28(3): 375-84.
66. Wang J, Ohno-Matsui K, Yoshida T et al. Amyloid-beta up-regulates complement factor B in retinal pigment epithelial cells through cytokines released from recruited macrophages/microglia: Another mechanism of complement activation in age-related macular degeneration. J Cell Physiol. 2009; 220(1): 119-28.
67. Oh H, Takagi H, Takagi C et al. The potential angiogenic role of macrophages in the formation of choroidal neovascular membranes. Invest Ophthalmol Vis Sci. 1999; 40(9): 1891-8.
68. Steen B, Sejersen S, Berglin L et al. Matrix metalloproteinases and metalloproteinase inhibitors in choroidal neovascular membranes. Invest Ophthalmol Vis Sci. 1998; 39(11): 2194-200.
69. Amin R, Puklin JE, Frank RN. Growth factor localization in choroidal neovascular membranes of age-related macular degeneration. Invest Ophthalmol Vis Sci. 1994; 35(8): 3178-88.
70. Hangai M, Murata T, Miyawaki N et al. Angiopoietin-1 upregulation by vascular endothelial growth factor in human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci. 2001; 42(7): 1617-25.
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