Stargardt disease

Common Name(s)

Stargardt disease, Stargardt macular dystrophies

Stargardt disease, also known as Stargardt macular degeneration, 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 lack of proteins that help transport waste out of the cells in the retina that sense light (photoreceptor cells). Since the waste cannot be transported out of these cells, it builds up and causes damage to the macula, leading to the loss of vision. People with Stargardt disease also have problems with night vision and some people may also have problems seeing colors. The signs and symptoms of Stargardt disease typically appear between late childhood and early adulthood.

Stargardt disease is caused by changes (mutations) in either the ABCA4 gene, which is more common, or the ELOVL4 gene, which is rare. Both genes provide instructions for the body to make the waste transporting proteins. When the condition is caused by ABCA4 mutations, it is inherited in an autosomal recessive way, meaning a person needs a mutation in both of their ABCA4 copies to have the condition. When the condition is caused by ELOVL4 mutations, it is inherited in an autosomal dominant way, meaning a mutation in only one of the ELOVL4 copies a person has is enough to cause the condition.

If there are too many blood vessels or leakage of blood vessels under the macula, anti-VEFG drugs can be injected into the eye. 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, 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.

 

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

Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.
 

Author(s): Tobias Duncker, Marcela Marsiglia, Winston Lee, Jana Zernant, Stephen H Tsang, Rando Allikmets, Vivienne C Greenstein, Janet R Sparrow

Journal:

 

Short-wavelength (SW) fundus autofluorescence (AF) is considered to originate from lipofuscin in retinal pigment epithelium (RPE) and near-infrared (NIR) AF from melanin. In patients with recessive Stargardt disease (STGD1), we correlated SW-AF and NIR-AF with structural information ...

Last Updated: 16 Dec 2014

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Clinical and molecular characteristics of childhood-onset Stargardt disease.
 

Author(s): Kaoru Fujinami, Jana Zernant, Ravinder K Chana, Genevieve A Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Anthony G Robson, Graham E Holder, Rando Allikmets, Michel Michaelides, Anthony T Moore

Journal: Ophthalmology. 2015 Feb;122(2):326-34.

 

To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD).

Last Updated: 27 Jan 2015

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The external limiting membrane in early-onset Stargardt disease.
 

Author(s): Winston Lee, Kalev Nõupuu, Maris Oll, Tobias Duncker, Tomas Burke, Jana Zernant, Srilaxmi Bearelly, Stephen H Tsang, Janet R Sparrow, Rando Allikmets

Journal:

 

To describe pathologic changes of the external limiting membrane (ELM) in young patients with early-onset Stargardt (STGD1) disease.

Last Updated: 3 Oct 2014

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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

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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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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Last Updated: 1 Apr 2015

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