Stargardt Disease 3

Common Name(s)

Stargardt Disease 3

Stargardt disease 3 is a specific type of Stargardt macular degeneration, which 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 proteins in the light sensing cells of the retina (photoreceptor cells). These clumps of protein cause damage to the macula, leading to the loss of vision. People with Stargardt disease 3 also have problems with night vision and some people may also have problems seeing colors. The signs and symptoms typically appear between late childhood and early adulthood.

Stargardt disease 3 is caused by a change (mutation) in the ELOVL4 gene, which provides instructions for the body to make a protein that is important for normal retinal function. When there is a mutation in the ELOVL4 gene, it causes a buildup of the ELOVL4 protein in the light-sensing (photoreceptor) cells of the retina. The condition is inherited in an autosomal dominant way, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. The diagnosis of Stargardt disease 3 is usually made by an eye doctor (ophthalmologist) who uses vision tests and tools to examine the retina.

There is currently no cure for Stargardt disease 3. If there are too many blood vessels or leakage of blood vessels under the macula, medications can be injected into the eye to help lessen the symptoms. Good nutrition and protection from ultraviolet (UV) rays have also been shown to slow the progression of the disease. If your child has been diagnosed with Stargardt disease 3, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Stargardt disease.

Source: Advocacy organizations associated with the condition.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stargardt Disease 3" for support, advocacy or research.

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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 "Stargardt Disease 3" returned 2 free, full-text research articles on human participants. First 3 results:

Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice.
 

Author(s): Anne McMahon, Igor A Butovich, Wojciech Kedzierski

Journal: J. Lipid Res.. 2011 Jun;52(6):1128-38.

 

Elongase of very long chain fatty acids-4 (ELOVL4) is the only mammalian enzyme known to synthesize C28-C36 fatty acids. In humans, ELOVL4 mutations cause Stargardt disease-3 (STGD3), a juvenile dominant macular degeneration. Heterozygous Stgd3 mice that carry a pathogenic mutation ...

Last Updated: 16 May 2011

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Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
 

Author(s): Anne McMahon, Igor A Butovich, Nathan L Mata, Martin Klein, Robert Ritter, James Richardson, David G Birch, Albert O Edwards, Wojciech Kedzierski

Journal:

 

Autosomal dominant Stargardt disease-3 (STGD3) is caused by mutations in elongase of very long chain fatty acids-4 (ELOVL4). The goal of this study was to generate and characterize heterozygous and homozygous knockin-mice that carry a human STGD3 pathogenic mutation in the mouse Elovl4 gene.

Last Updated: 14 Mar 2007

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Reviews from the PubMed Database

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The terms "Stargardt Disease 3" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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