Late-onset retinal degeneration

Common Name(s)

Late-onset retinal degeneration

Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy ({1:Hayward et al., 2003}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Late-onset retinal degeneration" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Late-onset retinal degeneration" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Late-onset retinal degeneration" returned 7 free, full-text research articles on human participants. First 3 results:

Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.
 

Author(s): Xiongying Tu, Krzysztof Palczewski

Journal: J. Struct. Biol.. 2012 Dec;180(3):439-46.

 

Autosomal dominant late-onset retinal macular degeneration (L-ORMD) is caused by a single S163R mutation in the C1q and tumor necrosis factor-related protein 5 (C1QTNF5) gene. The C1QTNF5 gene encodes a secreted and membrane-associated protein involved in adhesion of retinal pigmented ...

Last Updated: 12 Nov 2012

Go To URL
Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.
 

Author(s): Xinhua Shu, Ulrich F O Luhmann, Tomas S Aleman, Susan E Barker, Alan Lennon, Brian Tulloch, Mei Chen, Heping Xu, Samuel G Jacobson, Robin Ali, Alan F Wright

Journal: PLoS ONE. 2011 ;6(11):e27433.

 

A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated ...

Last Updated: 23 Nov 2011

Go To URL
Identification of a promoter for the human C1Q-tumor necrosis factor-related protein-5 gene associated with late-onset retinal degeneration.
 

Author(s): Venkata R M Chavali, Jeffrey R Sommer, Robert M Petters, Radha Ayyagari

Journal: Invest. Ophthalmol. Vis. Sci.. 2010 Nov;51(11):5499-507.

 

The Complement-1q tumor necrosis factor-related protein 5 (C1QTNF5/CTRP5) gene is located in the 3' untranslated region of the Membrane Frizzled Related Protein (MFRP) gene, and these two genes are reported to be dicistronic. The authors examined the 5' upstream sequence of CTRP5 ...

Last Updated: 28 Oct 2010

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 "Late-onset retinal degeneration" returned 0 free, full-text review articles on human participants.

 
 
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

Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 31 Jul 2014

Go to URL