KEGG   DISEASE: H00821Help
Entry
H00821                      Disease                                

Name
Macular degeneration, including:
Age-related macular degeneration (ARMD);
Patterned dystrophy of retinal pigment epithelium (PDREP);
Retinal macular dystrophy 2 (MCDR2);
X-linked atrophic macular degeneration (MDXLA)
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.
Category
Nervous system disease; Eye disease
BRITE hierarchy
Pathway
ABC transporters
Nucleotide excision repair
Phagosome
Toll-like receptor signaling pathway
Cytokine-cytokine receptor interaction
Chemokine signaling pathway
Gene
(ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) HF1 [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(PDREP) PRPH2 [HSA:5961] [KO:K17343]
(MCDR2) PROM1 [HSA:8842] [KO:K06532]
(MDXLA) RPGR [HSA:6103]
Drug
Verteporfin [DR:D01162]
Bevacizumab [DR:D06409]
Ranibizumab [DR:D05697]
Laser photocoagulation
Comment
Haplotypes of the complement factor B (CFB) and complement component-2 (C2) genes, which encode regulatory proteins in the same alternate complement pathway as CFH, have been found in association with reduced risk of ARMD. A haplotype carrying deletion of the complement factor H-related genes CFHR1 and CFHR3 is also associated with reduced risk of ARMD.
CFB [HSA:629] [KO:K01335]
C2 [HSA:717] [KO:K01332]
CFHR1 [HSA:3078]
CFHR3 [HSA:10878]
Other DBs
Reference
  Authors
Montezuma SR, Sobrin L, Seddon JM
  Title
Review of genetics in age related macular degeneration.
  Journal
Semin Ophthalmol 22:229-40 (2007)
Reference
  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
PLoS One 5:e13786 (2010)
Reference
  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
Genomics 80:166-71 (2002)
Reference
PMID:3718916
  Authors
Giuffre G, Lodato G
  Title
Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family.
  Journal
Br J Ophthalmol 70:526-32 (1986)
Reference
  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
Invest Ophthalmol Vis Sci 51:4771-80 (2010)
Reference
PMID:21546780 (Drag)
  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
Ophthalmologica 226:45-50 (2011)
Reference
PMID:21623685 (drag)
  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
Curr Med Res Opin 27:1465-75 (2011)
Reference
  Authors
Virgili G, Bini A
  Title
Laser photocoagulation for neovascular age-related macular degeneration.
  Journal
Cochrane Database Syst Rev CD004763 (2007)

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