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: 22 Sep 2015

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General Support Organizations

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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.

http://www.blindness.org

Last Updated: 22 Sep 2015

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

Best Vitelliform Macular Dystrophy In Afghan Twins.
 

Author(s): Ayisha Kausar, Nadia Akhtar

Journal: J Ayub Med Coll Abbottabad. ;28(2):404-406.

 

Best vitelliform macular dystrophy is the second most common type of hereditary fundus dystrophies. Our case report describes twin brothers of Afghan family who developed Best vitelliform macular dystrophy. One of them developed choroidal neovascularization in one eye which was treated ...

Last Updated: 31 Dec 1969

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[Choroidal neovascularization complicating Best's vitelliform macular dystrophy in a child].
 

Author(s): A Elkhoyaali, S Chatoui, N Bercheq, N Elouatassi, R Zerrouk, F Elasri, K Reda, A Oubaaz

Journal: J Fr Ophtalmol. 2016 Jan;39(1):69-73.

 

Best's disease is a progressive macular dystrophy, beginning either in childhood or adolescence.

Last Updated: 31 Dec 1969

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Last Updated: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 13 Sep 2017

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Cell Collection to Study Eye Diseases
 

Status: Recruiting

Condition Summary: Retinal Disease; AMD; Retinal Degeneration

 

Last Updated: 11 Jan 2018

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