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age-related macular degeneration

Age-related maculopathy

 

Age-related macular degeneration (AMD) is a disease that destroys the macula (the central part of retina), severely regimenting a person's normal sight. Current treatments include photodynamic therapy and photocoagulation.

Etiology

The characterization of Ccl-2(-/-)- and Ccr-2(-/-)-knockout mice with features of AMD, coupled with a recently reported association of the gene encoding complement factor H with this disorder, suggests the involvement of macrophages and complement in the pathogenesis of this disease.

Animal models

-  Ccl-2(-/-)- knockout mice
-  Ccr-2(-/-)- knockout mice

Susceptibilty loci (#12945014#, #12900797#)

-  1q31 (#15168325#)
-  chromosome 2
-  3p13 (#15168325#)
-  4q32 (#15168325#)
-  chromosome 6
-  chromosome 8
-  9q33
-  10q26 (#16080115#)
-  chromosome 12
-  chromosome 16
-  17q25 (#15168325#)
-  chromosome 22
-  chromosome X

References

-  Anand A, Prabhakar S, Ambeti J. Molecular basis of AMD: current concepts and recent advances. Trends Mol Med. 2005 Jun 14; PMID: #15963761#

-  Tezel TH, Bora NS, Kaplan HJ. Pathogenesis of age-related macular degeneration. Trends Mol Med. 2004 Sep;10(9):417-20. PMID: #15350892#

-  Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Hum Mol Genet. 2001 Oct 1;10(20):2285-92. PMID: #11673412#


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