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 The form of ARMD susceptibility designated ARMD1 is associated with variation in the HMCN1 gene. 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}) is associated with variation in the TLR4 gene ({603030}); ARMD11 ({611953}) 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.

Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 36 free, full-text research articles on human participants. First 3 results:

HTRA1 (high temperature requirement A serine peptidase 1) gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 (age-related maculopathy susceptibility 2) gene in patients with age-related macular degeneration.
 

Author(s): Daisuke Iejima, Takeshi Itabashi, Yuich Kawamura, Toru Noda, Shinsuke Yuasa, Keiichi Fukuda, Chio Oka, Takeshi Iwata

Journal: J. Biol. Chem.. 2015 Jan;290(5):2784-97.

 

Dry age-related macular degeneration (AMD) accounts for over 85% of AMD cases in the United States, whereas Japanese AMD patients predominantly progress to wet AMD or polypoidal choroidal vasculopathy. Recent genome-wide association studies have revealed a strong association between ...

Last Updated: 30 Jan 2015

Go To URL
Severity of age-related macular degeneration in 1 eye and the incidence and progression of age-related macular degeneration in the fellow eye: the Beaver Dam Eye Study.
 

Author(s): Ronald E Gangnon, Kristine E Lee, Barbara E K Klein, Sudha K Iyengar, Theru A Sivakumaran, Ronald Klein

Journal: JAMA Ophthalmol. 2015 Feb;133(2):125-32.

 

Previous studies regarding the severity of age-related macular degeneration (AMD) in 1 eye and its prognostic implications for the fellow eye have focused on the incidence of neovascular AMD in the fellow eye of participants with neovascular AMD in the other eye. It is unclear to ...

Last Updated: 14 Feb 2015

Go To URL
Identification of factor H-like protein 1 as the predominant complement regulator in Bruch's membrane: implications for age-related macular degeneration.
 

Author(s): Simon J Clark, Christoph Q Schmidt, Anne M White, Svetlana Hakobyan, B Paul Morgan, Paul N Bishop

Journal: J. Immunol.. 2014 Nov;193(10):4962-70.

 

The tight regulation of innate immunity on extracellular matrix (ECM) is a vital part of immune homeostasis throughout the human body, and disruption to this regulation in the eye is thought to contribute directly to the progression of age-related macular degeneration (AMD). The plasma ...

Last Updated: 8 Nov 2014

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Study Evaluating Intravitreal hI-con1™ in Patients With Choroidal Neovascularization Secondary to Age-related Macular Degeneration
 

Status: Recruiting

Condition Summary: Choroidal Neovascularization; Age-related Macular Degeneration

 

Last Updated: 1 Feb 2016

Go to URL
Phase 1 Study of CM082 in Patients With Wet-AMD
 

Status: Recruiting

Condition Summary: Age-Related Macular Degeneration

 

Last Updated: 2 Jan 2016

Go to URL
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: 27 Oct 2015

Go to URL