Stargardt disease 1

Common Name(s)

Stargardt disease 1

Stargardt disease 1 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 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 1 also have problems with night vision and some people may also have problems seeing colors. The signs and symptoms of Stargardt disease 1 typically appear between late childhood and early adulthood.

Stargardt disease 1 is caused by changes (mutations) in the ABCA4 gene, which provides instructions for the body to make the waste-transporting proteins. The condition is inherited in an autosomal recessive way, meaning a person needs a mutation in both of their ABCA4 copies to have the condition. The diagnosis of Stargardt disease 1 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 1. 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 1, 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 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stargardt disease 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
 

Author(s): Esther E Biswas-Fiss, Stephanie Affet, Malissa Ha, Subhasis B Biswas

Journal: J. Biol. Chem.. 2012 Dec;287(53):44097-107.

 

The retina-specific ATP binding cassette transporter, ABCA4 protein, is associated with a broad range of inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus. In order to understand its role in retinal transport ...

Last Updated: 31 Dec 2012

Go To URL
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
 

Author(s): R Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, M J Trujillo-Tiebas, D Cantalapiedra, E Vallespin, J Aguirre-Lamban, C Ramos, C Ayuso

Journal:

 

Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13.

Last Updated: 5 Feb 2007

Go To URL
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
 

Author(s): A Gehrig, U Felbor, R E Kelsell, D M Hunt, I H Maumenee, B H Weber

Journal: J. Med. Genet.. 1998 Aug;35(8):641-5.

 

We have recently characterised the genomic organisation of a novel interphotoreceptor matrix proteoglycan, IMPG1, and have mapped the gene locus to chromosome 6q13-q15 by fluorescence in situ hybridisation. As the interphotoreceptor matrix (IPM) is thought to play a critical role ...

Last Updated: 13 Nov 1998

Go To URL

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 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL
Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 1 May 2015

Go to URL

Last Updated: 1 Apr 2015

Go to URL