Vitelliform macular dystrophy

Common Name(s)

Vitelliform macular dystrophy, Best disease

Vitelliform macular dystrophy, also known as Best disease, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This disorder affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). The disease is caused by a buildup of a fatty yellow substance, called lipofuscin, in the macula cells. This buildup causes damage to these cells and leads to the symptoms of the disease, which includes blurry vision that leads to loss of central vision. This condition usually does not affect the vision on the side of the eyes (peripheral) or the ability to see at night. There are two forms of vitelliform macular dystrophy, an early onset form that usually begins in childhood (Best disease) and an adult onset form that typically begins in mid-adulthood.

Best disease is caused by a change (mutation) in the BEST1 gene. The condition is inherited in an autosomal dominant manner, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. There is currently no cure for Best disease and treatment typically consists of providing support for vision loss. If your child has been diagnosed with Best disease, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Best disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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 "Vitelliform macular dystrophy" returned 34 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 "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: 13 Jul 2015

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 1 May 2015

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Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 2 May 2015

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