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: 22 Sep 2015

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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.

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 "Stargardt disease" returned 96 free, full-text research articles on human participants. First 3 results:

EDI OCT evaluation of choroidal thickness in Stargardt disease.
 

Author(s): Andrea Sodi, Daniela Bacherini, Chiara Lenzetti, Orsola Caporossi, Vittoria Murro, Dario Pasquale Mucciolo, Francesca Cipollini, Ilaria Passerini, Gianni Virgili, Stanislao Rizzo

Journal:

 

Choroidal thickness (CT) evaluation with EDI-OCT in Stargardt Disease (STGD), considering its possible association with some clinical features of the disease.

Last Updated: 31 Dec 1969

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midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
 

Author(s): Riccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, Valerie Richelle, Silvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L Ingeborgh van den Born, Rob W J Collin, Frans P M Cremers

Journal: Genome Res.. 2018 01;28(1):100-110.

 

Stargardt disease is caused by variants in the gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, small genomic fragments carrying potential disease-associated variants are tested ...

Last Updated: 31 Dec 1969

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A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.
 

Author(s): Vivienne C Greenstein, Jason Nunez, Winston Lee, Kaspar Schuerch, Brad Fortune, Stephen H Tsang, Rando Allikmets, Janet R Sparrow, Donald C Hood

Journal: Invest. Ophthalmol. Vis. Sci.. 2017 10;58(12):5227-5236.

 

To compare morphologic changes on en face images derived from wide-field swept-source optical coherence tomography (ssOCT) to hypo- and hyperautofluorescent (hypoAF, hyperAF) areas on short-wavelength autofluorescence (SW-AF), and near-infrared (NIR)-AF in recessive Stargardt disease (STGD1).

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 "Stargardt disease" returned 3 free, full-text review articles on human participants. First 3 results:

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
 

Author(s): Preena Tanna, Rupert W Strauss, Kaoru Fujinami, Michel Michaelides

Journal: Br J Ophthalmol. 2017 Jan;101(1):25-30.

 

Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features ...

Last Updated: 31 Dec 1969

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Advances in imaging of Stargardt disease.
 

Author(s): Y Chen, A Roorda, J L Duncan

Journal: Adv. Exp. Med. Biol.. 2010 ;664():333-40.

 

Stargardt disease (STGD1) is an autosomal-recessively inherited condition often associated with mutations in ABCA4 and characterized by accumulation of autofluorescent lipofuscin deposits in the retinal pigment epithelium (RPE). Non-invasive imaging techniques including fundus autofluorescence ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1)
 

Status: Recruiting

Condition Summary: Stargardt Disease 1

 

Last Updated: 20 Sep 2018

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Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration
 

Status: Recruiting

Condition Summary: Stargardt's Disease

 

Last Updated: 9 Jul 2018

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Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration
 

Status: Recruiting

Condition Summary: Stargardt's Disease

 

Last Updated: 9 Jul 2018

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