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}). Forms designated ARMD5 ({613761}) and ARMD6 ({613757}) are associated with mutations in the ERCC6 ({609413}) and RAXL1 ({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. {51: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: 3 Nov 2012

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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.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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

The neovascular age-related macular degeneration database: multicenter study of 92 976 ranibizumab injections: report 1: visual acuity.
 

Author(s):

Journal: Ophthalmology. 2014 May;121(5):1092-101.

 

To study real-world ranibizumab therapy for treatment-naïve eyes with neovascular age-related macular degeneration (nAMD) and to benchmark standards of care.

Last Updated: 5 May 2014

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Increased 26S proteasome non-ATPase regulatory subunit 1 in the aqueous humor of patients with age-related macular degeneration.
 

Author(s): Hyungwoo Lee, Ae Jin Choi, Gum-Yong Kang, Hyung Soon Park, Hyung Chan Kim, Hyunjung Jade Lim, Hyewon Chung

Journal: BMB Rep. 2014 May;47(5):292-7.

 

Age-related macular degeneration (AMD) is the leading cause of blindness in the world. Evidence indicates that the suppression of the ubiquitin-proteasome system (UPS) contributes to the accumulation of toxic proteins and inflammation in retinal pigment epithelium (RPE), the functional ...

Last Updated: 27 May 2014

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Intravitreal anti-VEGF monotherapy for thick submacular hemorrhage of less than 1 week duration secondary to neovascular age-related macular degeneration.
 

Author(s): Sachin Jain, Kamal Kishore, Yog Raj Sharma

Journal: Indian J Ophthalmol. 2013 Sep;61(9):490-6.

 

To investigate the role of anti-VEGF monotherapy in patients with thick submacular hemorrhage (SMH) of ≤ 1 week duration secondary to neovascular age-related macular degeneration (N-AMD).

Last Updated: 9 Oct 2013

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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 Topical Ocular PAN-90806 for Neovascular AMD
 

Status: Recruiting

Condition Summary: Age-Related Macular Degeneration (AMD)

 

Last Updated: 30 Jun 2014

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Safety Study of PF582 Versus Lucentis in Patients With Age Related Macular Degeneration
 

Status: Recruiting

Condition Summary: Age Related Macular Degeneration (AMD)

 

Last Updated: 25 Apr 2014

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