Stargardt disease

Common Name(s)

Stargardt disease, Stargardt Macular Dystrophies

Stargardt disease is a genetic eye disorder that causes progressive vision loss. This disorder affects the macula, an area of the retina responsible for sharp central vision (needed for detailed tasks such as reading, driving, and recognizing faces). Individuals with the condition have abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells underlying the macula, which causes central vision loss. People with Stargardt disease also have problems with night vision and some people may have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is usually caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner, but it can also be caused by mutations in the ELOVL4 gene and inherited in an autosomal dominant manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stargardt disease" 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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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 "Stargardt disease" 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 "Stargardt disease" returned 59 free, full-text research articles on human participants. First 3 results:

Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration.
 

Author(s): Yu Chen, Grazyna Palczewska, Debarshi Mustafi, Marcin Golczak, Zhiqian Dong, Osamu Sawada, Tadao Maeda, Akiko Maeda, Krzysztof Palczewski

Journal: J. Clin. Invest.. 2013 Dec;123(12):5119-34.

 

A systems pharmacological approach that capitalizes on the characterization of intracellular signaling networks can transform our understanding of human diseases and lead to therapy development. Here, we applied this strategy to identify pharmacological targets for the treatment of ...

Last Updated: 2 Dec 2013

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Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.
 

Author(s): Tobias Duncker, Winston Lee, Stephen H Tsang, Jonathan P Greenberg, Jana Zernant, Rando Allikmets, Janet R Sparrow

Journal:

 

To report distinct characteristics of fundus autofluorescence (AF) patterns inferior to the optic disc in recessive Stargardt disease (STGD1) and retinitis pigmentosa (RP).

Last Updated: 18 Oct 2013

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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
 

Author(s): Terry A Braun, Robert F Mullins, Alex H Wagner, Jeaneen L Andorf, Rebecca M Johnston, Benjamin B Bakall, Adam P Deluca, Gerald A Fishman, Byron L Lam, Richard G Weleber, Artur V Cideciyan, Samuel G Jacobson, Val C Sheffield, Budd A Tucker, Edwin M Stone

Journal: Hum. Mol. Genet.. 2013 Dec;22(25):5136-45.

 

Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect one or both mutations. For example, among 208 ...

Last Updated: 28 Nov 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 "Stargardt disease" returned 1 free, full-text review articles on human participants. First 3 results:

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
 

Author(s): R Riveiro-Alvarez, J Aguirre-Lamban, M Angel Lopez-Martinez, M Jose Trujillo-Tiebas, D Cantalapiedra, E Vallespin, A Avila-Fernandez, C Ramos, C Ayuso

Journal: Br J Ophthalmol. 2009 Oct;93(10):1359-64.

 

To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population.

Last Updated: 25 Sep 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease
 

Status: Recruiting

Condition Summary: Stargardt Disease

 

Last Updated: 19 Sep 2012

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A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies
 

Status: Recruiting

Condition Summary: Stargardt Disease

 

Last Updated: 7 Nov 2013

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Phase I/IIa Study of StarGen in Patients With Stargardt Macular Degeneration
 

Status: Recruiting

Condition Summary: Stargardt Disease

 

Last Updated: 24 Jun 2014

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