Best Vitelliform Macular Dystrophy

Common Name(s)

Best Vitelliform Macular Dystrophy, Best Disease

Best vitelliform macular dystrophy is a genetic form of macular degeneration that usually begins in childhood or adolescence and slowly progresses to affect central vision.  Individuals typically retain normal peripheral vision and dark adaptation. The age of onset and severity of vision loss are highly variable. Best vitelliform macular dystrophy is an autosomal dominant condition which is associated with an abnormality in the BEST1 (VMD2) gene.  There is no specific treatment for vitelliform macular dystrophy at this time. Low vision aids may be helpful.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Best Vitelliform Macular Dystrophy" 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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General Support Organizations

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How do you compare to others with this condition?

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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 "Best Vitelliform Macular Dystrophy" 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.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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General Support Organizations

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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 "Best Vitelliform Macular Dystrophy" returned 17 free, full-text research articles on human participants. First 3 results:

Multimodal analysis of the progression of Best vitelliform macular dystrophy.
 

Author(s): Giuseppe Querques, Jennyfer Zerbib, Anouk Georges, Nathalie Massamba, Raimondo Forte, Lea Querques, Jean-Michel Rozet, Josseline Kaplan, Eric H Souied

Journal:

 

To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease.

Last Updated: 5 May 2014

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Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
 

Author(s): Tobias Duncker, Jonathan P Greenberg, Rithambara Ramachandran, Donald C Hood, R Theodore Smith, Tatsuo Hirose, Russell L Woods, Stephen H Tsang, Fran├žois C Delori, Janet R Sparrow

Journal:

 

Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas.

Last Updated: 14 Mar 2014

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Outer retinal structure in best vitelliform macular dystrophy.
 

Author(s): David B Kay, Megan E Land, Robert F Cooper, Adam M Dubis, Pooja Godara, Alfredo Dubra, Joseph Carroll, Kimberly E Stepien

Journal: JAMA Ophthalmol. 2013 Sep;131(9):1207-15.

 

Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).

Last Updated: 13 Sep 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 "Best Vitelliform Macular Dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
 

Status: Recruiting

Condition Summary: Retinal Disease; Bestrophinopathy; Best Vitelliform Macular Dystrophy; Adult Onset Vitelliform Macular Dystrophy; Autosomal Dominant Vitreoretinalchoroidopathy

 

Last Updated: 11 Jun 2014

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Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 17 Sep 2014

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