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

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
 

Author(s): L Zhao, S Grob, R Corey, M Krupa, J Luo, H Du, C Lee, G Hughes, J Lee, J Quach, J Zhu, P X Shaw, I Kozak, K Zhang

Journal: Eye (Lond). 2012 Jun;26(6):866-71.

 

To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children.

Last Updated: 14 Jun 2012

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The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
 

Author(s): Giuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, Maurizio Margaglione, Nathalie Delphin, Lea Querques, Jean-Michel Rozet, Josseline Kaplan, Eric H Souied

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To describe the morphologic and functional characteristics of subclinical Best vitelliform macular dystrophy (VMD) in subjects with mutation in the BEST1 gene.

Last Updated: 30 Jun 2011

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Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
 

Author(s): Emmanuelle Lacassagne, Aurore Dhuez, Florence Rigaudière, Anouk Dansault, Christelle Vêtu, Karine Bigot, Véronique Vieira, Bernard Puech, Sabine Defoort-Dhellemmes, Marc Abitbol

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To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD).

Last Updated: 4 Feb 2011

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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: 31 Jul 2014

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