Age-related macular degeneration 3

Common Name(s)

Age-related macular degeneration 3

Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by {1:Auer-Grumbach et al., 2011}). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.
 

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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 3" returned 18 free, full-text research articles on human participants. First 3 results:

Bicyclic [3.3.0]-Octahydrocyclopenta[c]pyrrolo Antagonists of Retinol Binding Protein 4: Potential Treatment of Atrophic Age-Related Macular Degeneration and Stargardt Disease.
 

Author(s): Christopher L Cioffi, Boglarka Racz, Emily E Freeman, Michael P Conlon, Ping Chen, Douglas G Stafford, Daniel M C Schwarz, Lei Zhu, Douglas B Kitchen, Keith D Barnes, Nicoleta Dobri, Enrique Michelotti, Charles L Cywin, William H Martin, Paul G Pearson, Graham Johnson, Konstantin Petrukhin

Journal: J. Med. Chem.. 2015 Aug;58(15):5863-88.

 

Antagonists of retinol-binding protein 4 (RBP4) impede ocular uptake of serum all-trans retinol (1) and have been shown to reduce cytotoxic bisretinoid formation in the retinal pigment epithelium (RPE), which is associated with the pathogenesis of both dry age-related macular degeneration ...

Last Updated: 13 Aug 2015

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Systemic and Ocular Long Pentraxin 3 in Patients with Age-Related Macular Degeneration.
 

Author(s): Helene Bæk Juel, Carsten Faber, Lea Munthe-Fog, Simone Bastrup-Birk, Alexander Lynge Reese-Petersen, Mads Krüger Falk, Amardeep Singh, Torben Lykke Sørensen, Peter Garred, Mogens Holst Nissen

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Age-related macular degeneration (AMD) has been associated with both systemic and ocular alterations of the immune system. In particular dysfunction of complement factor H (CFH), a soluble regulator of the alternative pathway of the complement system, has been implicated in AMD pathogenesis. ...

Last Updated: 16 Jul 2015

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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

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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 3" returned 2 free, full-text review articles on human participants. First 3 results:

Omega-3 Fatty Acids and Age-Related Macular Degeneration.
 

Author(s): Eric H Souied, Tariq Aslam, Alfredo Garcia-Layana, Frank G Holz, Anita Leys, Rufino Silva, Cécile Delcourt

Journal: Ophthalmic Res.. 2015 ;55(2):62-9.

 

Against a background of considerable epidemiological and other evidence implicating omega-3 fatty acids in the prevention of age-related macular degeneration (AMD), the negative results of the Age-Related Disease Study 2 (AREDS2) were unexpected. The possibility that the design, setting, ...

Last Updated: 15 Dec 2015

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Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGE review and meta-analysis.
 

Author(s): Ammarin Thakkinstian, Gareth J McKay, Mark McEvoy, Usha Chakravarthy, Subhabrata Chakrabarti, Giuliana Silvestri, Inderjeet Kaur, Xiaoxin Li, John Attia

Journal: Am. J. Epidemiol.. 2011 Jun;173(12):1365-79.

 

The authors performed a meta-analysis to estimate the magnitude of polymorphism effects for the complement component C3 gene (C3) and their possible mode of action on age-related macular degeneration (AMD). The meta-analysis included 16 and 7 studies for rs2230199 and rs1047286, respectively. ...

Last Updated: 7 Jun 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Microperimetry and Eye Progressing From Stage 3 to Stage 4 Age-related Macular Degeneration (AMD)
 

Status: Not yet recruiting

Condition Summary: Stage 3 Age Related Macular Degeneration (AREDS Classification)

 

Last Updated: 23 Mar 2015

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Intravitreal tPA and C3F8 for the Treatment of Submacular Haemorrhage as a Complication of Neovascular Age-related Macular Degeneration
 

Status: Recruiting

Condition Summary: Exudative Macular Degeneration; Retinal Hemorrhage

 

Last Updated: 22 Jan 2016

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