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age-related macular degeneration

Monday 22 September 2003

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.

Basal laminar drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the interface of the retinal pigment epithelium (RPE) and the Bruch membrane.


Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene.

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

Genes involved in susceptibility

- fibuline-5 (FBLN5) (in ARMD3 MIM.608895)
- CST3
- CX3CR1
- TLR4
- LRP6
- MMP9

Animal models

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

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.


- Jager RD, Mieler WF, Miller JW. Age-related macular degeneration. N Engl J Med. 2008 Jun 12;358(24):2606-17. PMID: 18550876

- de Jong PT. Age-related macular degeneration. N Engl J Med. 2006 Oct 5;355(14):1474-85. PMID: 17021323

- 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