Age-related macular degeneration 1

Common Name(s)

Age-related macular degeneration 1

Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by {18:De et al., 2007}). Genetic Heterogeneity of Age-Related Macular Degeneration ARMD2 ({153800}) is associated with mutation in the ABCR gene ({601691}) on chromosome 1p, and ARMD3 ({608895}) is caused by mutation in the FBLN5 gene ({604580}) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; {610698}) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 ({613761}) and ARMD6 ({613757}) are associated with mutation in the ERCC6 ({609413}) and RAX2 ({610362}) genes, respectively. ARMD7 ({610149}) and ARMD8 ({613778}), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 ({602194}) and ARMS2 ({611313}) genes, respectively. ARMD9 ({611378}) is associated with single-nucleotide polymorphisms in the C3 gene ({120700}). ARMD10 ({611488}) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene ({603030}). ARMD11 ({611953}) is association with variation in the CST3 gene ({604312}); ARMD12 ({613784}) with variation in the CX3CR1 gene ({601470}); and ARMD13 ({615439}) with variation in the CFI gene ({217030}). ARMD14 ({615489}) is associated with variation in or near the C2 ({613927}) and CFB ({138470}) genes on chromosome 6p21. ARMD15 ({615591}) is associated with variation in the C9 gene ({120940}). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 ({590050}). A haplotype carrying deletion of the complement factor H-related genes CFHR1 ({134371}) and CFHR3 ({605336}) is also associated with reduced risk of ARMD. {53:Lotery and Trump (2007)} reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Age-related macular degeneration 1" for support, advocacy or research.

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 22 Sep 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Age-related macular degeneration 1" for support, advocacy or research.

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

http://www.blindness.org

Last Updated: 22 Sep 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Age-related macular degeneration 1" returned 47 free, full-text research articles on human participants. First 3 results:

Oral Tyrosine Kinase Inhibitor for Neovascular Age-Related Macular Degeneration: A Phase 1 Dose-Escalation Study.
 

Author(s): Timothy L Jackson, David Boyer, David M Brown, Nauman Chaudhry, Michael Elman, Chris Liang, Denis O'Shaughnessy, Edward C Parsons, Sunil Patel, Jason S Slakter, Philip J Rosenfeld

Journal: JAMA Ophthalmol. 2017 Jul;135(7):761-767.

 

An oral treatment for neovascular age-related macular degeneration would be less burdensome than repeated intravitreous injections. X-82 is an oral tyrosine kinase inhibitor active against vascular endothelial growth factor (VEGF) and platelet-derived growth factor.

Last Updated: 31 Dec 1969

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Decreased Circulating Levels of Dickkopf-1 in Patients with Exudative Age-related Macular Degeneration.
 

Author(s): Fangfang Qiu, Zhen Liu, Yueping Zhou, Jia He, Songjian Gong, Xue Bai, Yingxia Zeng, Zuguo Liu, Jian-Xing Ma

Journal:

 

Aberrant activation of the Wnt/β-catenin signaling pathway plays a pathogenic role in retinal inflammation and neovascularization. Here, we investigated whether circulating levels of Dickkopf-1 (DKK-1), a specific inhibitor of this pathway, are altered in patients with exudative ...

Last Updated: 31 Dec 1969

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Systemic frequencies of T helper 1 and T helper 17 cells in patients with age-related macular degeneration: A case-control study.
 

Author(s): Amardeep Singh, Yousif Subhi, Marie Krogh Nielsen, Mads Krüger Falk, Sara Maj Hyldig Matzen, Finn Sellebjerg, Torben Lykke Sørensen

Journal:

 

Age-related macular degeneration (AMD) is a degenerative disease of the retina and a leading cause of irreversible vision loss. We investigated the systemic differences in the frequency of T helper (Th) 1 and Th17 cells in patients with non-exudative and exudative AMD and compared ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Age-related macular degeneration 1" returned 1 free, full-text review articles on human participants. First 3 results:

Sphingosine-1-phosphate antibodies as potential agents in the treatment of cancer and age-related macular degeneration.
 

Author(s): Roger A Sabbadini

Journal: Br. J. Pharmacol.. 2011 Mar;162(6):1225-38.

 

Sphingosine-1-phosphate (S1P) is a pleiotropic bioactive lipid thought to be dysregulated in a variety of disease conditions. In this review, we discuss the roles of S1P in cancer and in wet age-related macular degeneration. We also explore potential treatment strategies for these ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety Trial of Conbercept Intravitreal Injection for Neovascular Age-related Macular Degeneration (PANDA-1)
 

Status: Not yet recruiting

Condition Summary: Neovascular Age-related Macular Degeneration

 

Last Updated: 24 Jun 2018

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Safety and Efficacy of AS101 1% Oral Solution in Patients With Neovascular Age-Related Macular Degeneration (AMD)
 

Status: Recruiting

Condition Summary: Neovascular Age-related Macular Degeneration

 

Last Updated: 31 Jul 2018

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