Age-related macular degeneration

Definition:

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.

References:

[1]. Andrea Rivera, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005 Nov 1;14(21):3227-36. [Content Brief]

[2]. Andrew Dewan, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006 Nov 10;314(5801):989-92. [Content Brief]

[3]. Anne E Hughes, et al. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet. 2006 Oct;38(10):1173-7. [Content Brief]

[4]. Bert Gold, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet. 2006 Apr;38(4):458-62. [Content Brief]

[5]. Dennis W Schultz, et al. Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet. 2003 Dec 15;12(24):3315-23. [Content Brief]

[6]. Edwin M Stone, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004 Jul 22;351(4):346-53. [Content Brief]

[7]. G Virgili, et al. Laser photocoagulation for neovascular age-related macular degeneration. Cochrane Database Syst Rev. 2007 Jul 18;(3):CD004763. [Content Brief]

[8]. Jan Zurdel, et al. CST3 genotype associated with exudative age related macular degeneration. Br J Ophthalmol. 2002 Feb;86(2):214-9. [Content Brief]

[9]. Jingsheng Tuo, 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 U S A. 2006 Jun 13;103(24):9256-61. [Content Brief]

[10]. Jingsheng Tuo, et al. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J. 2004 Aug;18(11):1297-9. [Content Brief]

[11]. Johanna M Seddon, et al. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet. 2013 Nov;45(11):1366-70. [Content Brief]

[12]. Johannes P H van de Ven, et al. A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet. 2013 Jul;45(7):813-7. [Content Brief]

[13]. John R W Yates, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007 Aug 9;357(6):553-61. [Content Brief]

[14]. Qing-liang Wang, et al. QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum Mol Genet. 2004 May 15;13(10):1025-40. [Content Brief]

[15]. R Allikmets, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19;277(5333):1805-7. [Content Brief]

[16]. Robert J Klein, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005 Apr 15;308(5720):385-9. [Content Brief]

[17]. Sandra R Montezuma, et al. Review of genetics in age related macular degeneration. Semin Ophthalmol. 2007 Oct-Dec;22(4):229-40. [Content Brief]

[18]. Sepideh Zareparsi, et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet. 2005 Jun 1;14(11):1449-55. [Content Brief]

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