Stargardt disease 4

Common Name(s)

Stargardt disease 4

Stargardt disease 4 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 damage that occurs to the light sensing cells of the retina (photoreceptor cells). People with Stargardt disease 4 also have problems with night vision and some people may also have problems seeing colors. The signs and symptoms of Stargardt disease 4 typically appear between late childhood and early adulthood.

Stargardt disease 4 is caused by a change (mutation) in the PROM1 gene. Researchers are not certain how a mutation in this gene causes Stargardt disease. However, it is understood that the condition is inherited in an autosomal dominant manner. Autosomal dominant indicates that 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 4 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 4. 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 4, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Stargardt.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stargardt disease 4" for support, advocacy or research.

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

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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A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.
 

Author(s): M Kniazeva, M F Chiang, B Morgan, A L Anduze, D J Zack, M Han, K Zhang

Journal: Am. J. Hum. Genet.. 1999 May;64(5):1394-9.

 

Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly ...

Last Updated: 20 May 1999

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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 "Stargardt disease 4" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 1 Apr 2015

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Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
 

Status: Recruiting

Condition Summary: Stargardt Disease; Stargardt Macular Degeneration; Stargardt Macular Dystrophy; Autosomal Recessive Stargardt Disease 1 (ABCA4-related)

 

Last Updated: 25 Aug 2015

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Last Updated: 5 May 2015

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