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:

Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.
 

Author(s): Bhubanananda Sahu, Venkata R M Chavali, Akhila Alapati, John Suk, Dirk-Uwe Bartsch, Monica M Jablonski, Radha Ayyagari

Journal:

 

A spontaneous frameshift mutation, c.3481delC, in the Crb1 gene is the underlying cause of dysplasia and retinal degeneration in rd8 mice. The rd8 mutation is found in C57BL/6N but not in C57BL/6J mouse sub-strains. The development of ocular pathology in single knockout Ccl2-/-, Cx3cr1-/- ...

Last Updated: 27 Mar 2015

Go To URL
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
 

Author(s): Vasileios Soumplis, Panagiotis I Sergouniotis, Anthony G Robson, Michel Michaelides, Anthony T Moore, Graham E Holder, Andrew R Webster

Journal: Acta Ophthalmol. 2013 May;91(3):e191-5.

 

To describe the ocular and electrophysiological phenotype of four patients with late-onset retinal degeneration (LORD).

Last Updated: 17 Apr 2013

Go To URL
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

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 Genetics Home Reference.

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: 22 Mar 2016

Go to URL