Entry |
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Name |
Age-related macular degeneration |
Description |
Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. In AMD, there are two phenotypes, atrophic/ dry and neovascular/ wet. The former is characterized by the geographic atrophy due to death of retinal pigment epithelium, and the latter is usually characterized by the abnormal growth of new blood vessels under the macula, which causes severe loss of vision. While wet AMD can be treated by the inhibition of vascular endothelial growth factor or photodynamic therapy, so far there are no available treatments for dry AMD.
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Category |
Nervous system disease
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Brite |
Human diseases [BR:br08402]
Nervous system diseases
Eye disease
H00821 Age-related macular degeneration
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B75 Macular Disorders
H00821 Age-related macular degeneration
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Pathway |
hsa04610 | Complement and coagulation cascades |
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Gene |
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Drug |
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Comment |
A haplotype carrying deletion of the complement factor H-related genes CFHR1 and CFHR3 is also associated with reduced risk of ARMD.
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Other DBs |
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Reference |
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Authors |
Montezuma SR, Sobrin L, Seddon JM |
Title |
Review of genetics in age related macular degeneration. |
Journal |
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Reference |
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Authors |
Baas DC, Despriet DD, Gorgels TG, Bergeron-Sawitzke J, Uitterlinden AG, Hofman A, van Duijn CM, Merriam JE, Smith RT, Barile GR, ten Brink JB, Vingerling JR, Klaver CC, Allikmets R, Dean M, Bergen AA |
Title |
The ERCC6 gene and age-related macular degeneration. |
Journal |
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Reference |
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Authors |
Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA |
Title |
X-linked recessive atrophic macular degeneration from RPGR mutation. |
Journal |
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Reference |
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Authors |
Giuffre G, Lodato G |
Title |
Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family. |
Journal |
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Reference |
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Authors |
Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL |
Title |
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. |
Journal |
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Reference |
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Authors |
Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM |
Title |
Variation near complement factor I is associated with risk of advanced AMD. |
Journal |
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Reference |
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Authors |
Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, Gehrs K, Cramer K, Neel J, Bergeron J, Barile GR, Smith RT, Hageman GS, Dean M, Allikmets R |
Title |
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. |
Journal |
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Reference |
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Authors |
Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U |
Title |
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. |
Journal |
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Reference |
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Authors |
Koss MJ, Lewicka-Chomont A, Schramm K, Rejdak R, Ohrloff C, Koch FH |
Title |
Quadruple therapy leads to a sustained improvement of vision in patients with wet age-related macular degeneration. |
Journal |
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Reference |
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Authors |
Mitchell P |
Title |
A systematic review of the efficacy and safety outcomes of anti-VEGF agents used for treating neovascular age-related macular degeneration: comparison of ranibizumab and bevacizumab. |
Journal |
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Reference |
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Authors |
Virgili G, Bini A |
Title |
Laser photocoagulation for neovascular age-related macular degeneration. |
Journal |
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Reference |
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Authors |
Colquitt JL, Jones J, Tan SC, Takeda A, Clegg AJ, Price A |
Title |
Ranibizumab and pegaptanib for the treatment of age-related macular degeneration: a systematic review and economic evaluation. |
Journal |
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Reference |
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Authors |
Geltzer A, Turalba A, Vedula SS |
Title |
Surgical implantation of steroids with antiangiogenic characteristics for treating neovascular age-related macular degeneration. |
Journal |
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LinkDB |
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