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 {16: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. {52: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 39 free, full-text research articles on human participants. First 3 results:

Single Nucleotide Polymorphisms of the Sirtuin 1 (SIRT1) Gene are Associated With age-Related Macular Degeneration in Chinese Han Individuals: A Case-Control Pilot Study.
 

Author(s): Zhiqing Chen, Yi Zhai, Wei Zhang, Yan Teng, Ke Yao

Journal: Medicine (Baltimore). 2015 Dec;94(49):e2238.

 

To investigate whether 3 variants in sirtuin 1 (SIRT1) gene contributed differently in patients with age-related macular degeneration (AMD) in a Chinese Han population.We conducted a case-control study in a group of Chinese patients with AMD (n = 253) and contrasted the results ...

Last Updated: 15 Dec 2015

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Prospective Trial of Treat-and-Extend versus Monthly Dosing for Neovascular Age-Related Macular Degeneration: TREX-AMD 1-Year Results.
 

Author(s): Charles C Wykoff, Daniel E Croft, David M Brown, Rui Wang, John F Payne, Lloyd Clark, Nizar Saleh Abdelfattah, SriniVas R Sadda,

Journal: Ophthalmology. 2015 Dec;122(12):2514-22.

 

To assess prospectively a treat-and-extend (TREX) management strategy compared with monthly dosing of intravitreal ranibizumab in treatment-naïve neovascular age-related macular degeneration (AMD) patients.

Last Updated: 23 Nov 2015

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Netrin-1 - DCC Signaling Systems and Age-Related Macular Degeneration.
 

Author(s): John Paul SanGiovanni, Jing Chen, Ankur S Gupta, Lois E H Smith, Przemyslaw Sapieha, Phil H Lee

Journal:

 

We conducted a nested candidate gene study and pathway-based enrichment analysis on data from a multi-national 77,000-person project on the molecular genetics of age-related macular degeneration (AMD) to identify AMD-associated DNA-sequence variants in genes encoding constituents ...

Last Updated: 8 May 2015

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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: 23 Feb 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 1 Study of CM082 in Patients With Wet-AMD
 

Status: Recruiting

Condition Summary: Age-Related Macular Degeneration

 

Last Updated: 2 Jan 2016

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Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
 

Status: Recruiting

Condition Summary: Stargardt Disease; Stargardt Macular Degeneration; Stargardt Macular Dystrophy; Autosomal Recessive Stargardt Disease 1 (ABCA4-related)

 

Last Updated: 25 May 2016

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Evaluation the Pharmacokinetics, Safety, Tolerability of TK001 in Patients With Neovascular Age-related Macular Degeneration
 

Status: Recruiting

Condition Summary: Neovascular Age-related Macular Degeneration

 

Last Updated: 21 Nov 2015

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