Stargardt disease

Title

Other Names:

Stargardt macular dystrophy; Juvenile onset macular degeneration

Categories:

Congenital and Genetic Diseases; Eye diseases

Summary Summary

Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time.^[1] It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner.^[1]^[2] There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.^[3]

Last updated: 3/7/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Reduced visual acuity	Obligate (present in 100% of cases)
Abnormality of color vision	Very frequent (present in 80%-99% of cases)
Abnormality of macular pigmentation	Very frequent (present in 80%-99% of cases)
Abnormality of the choroid	Very frequent (present in 80%-99% of cases)
Abnormality of the fovea	Very frequent (present in 80%-99% of cases)
Abnormality of visual evoked potentials	Very frequent (present in 80%-99% of cases)
Central scotoma	Very frequent (present in 80%-99% of cases)
Macular degeneration	Very frequent (present in 80%-99% of cases)
Nyctalopia	Very frequent (present in 80%-99% of cases)
Paroxysmal involuntary eye movements	Very frequent (present in 80%-99% of cases)
Retinal pigment epithelial atrophy	Very frequent (present in 80%-99% of cases)
Retinal pigment epithelial mottling	Very frequent (present in 80%-99% of cases)
Retinal thinning	Very frequent (present in 80%-99% of cases)
Aplasia/Hypoplasia of the macula	Frequent (present in 30%-79% of cases)
Yellow/white lesions of the macula	Frequent (present in 30%-79% of cases)
Bull's eye maculopathy	Very rare (present in 1%-4% of cases)
Autosomal recessive inheritance	-
Retinitis pigmentosa inversa	-

Last updated: 5/8/2017

Inheritance Inheritance

Stargardt disease is most commonly inherited in an autosomal recessive manner.^[1]^[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier

A person with autosomal recessive Stargardt disease will always pass one mutated copy of the gene to each of his/her children. In other words, each of his/her children will at least be a carrier. A child of an affected person can be affected if the other parent is also affected or is a carrier.

In rare cases, Stargardt disease may be inherited in an autosomal dominant manner.^[4] This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. An affected person typically inherits the mutated gene from an affected parent.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated: 3/8/2016

Diagnosis Diagnosis

Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.

Last updated: 3/8/2016

Testing Resources

The John and Marcia Carver Nonprofit Genetic Testing Laboratory provides non-profit genetic testing for rare eye diseases to meet a societal need. Click here to read about genetic testing for Stargardt disease.

Treatment Treatment

At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA).^[5] You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.^[5]

Last updated: 6/4/2014

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Stargardt disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Macular Degeneration Foundation
PO Box 515
Northampton, MA 01061-0515
Toll-free: 1-888-MACULAR
Telephone: 413-268-7660
Website: http://www.macular.org/
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
Lighthouse International
111 E 59th Street
New York, NY 10022-1202
Toll-free: 800-829-0500
Telephone: 212-821-9200
TTY: 212-821-9713
Fax: 212-821-9707
E-mail: info@lighthouse.org
Website: http://www.lighthouse.org
Macular Degeneration Foundation
PO Box 531313
Henderson, NV 89053
Telephone: 888-633-3937
Fax: 702-450-3396
Website: http://www.eyesight.org
Royal National Institute of Blind People
RNIB Headquarters
105 Judd Street
London
WC1H 9NE
United Kingdom
Telephone: 0303 123 9999
E-mail: helpline@rnib.org.uk
Website: http://www.rnib.org.uk/Pages/Home.aspx

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
Foundation Fighting Blindness provides information about Stargardt disease and other retinal diseases.
Genetics Home Reference (GHR) contains information on Stargardt disease. This website is maintained by the National Library of Medicine.
The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Stargardt disease. Click on the link to view a sample search on this topic.

News & Events News & Events

NCATS Co-Sponsored Conferences

The 11th Annual North American Genetic Analysis of ABC Transporters Workshop Wednesday, September 24, 2014 - Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.

Contact: Dr. Michael Dean,(301) 846-5931,deanm@mail.nih.gov

Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My husband has been diagnosed with Stargardt disease. I have a baby and my concern is about him. Should I get his eyesight checked from now on? See answer
Are there any dietary supplements or natural substances that may slow the progression of vision loss? See answer

Have a question? Contact a GARD Information Specialist.

References References

Stargardt macular degeneration. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration.
Jane Kelly. STARGARDT DISEASE 1; STGD1. OMIM. June 8, 2015; http://www.omim.org/entry/248200.
Facts About Stargardt Disease. NEI. April, 2015; https://nei.nih.gov/health/stargardt/star_facts.
Jane Kelly. STARGARDT DISEASE 3; STGD3. OMIM. September 11, 2006; http://www.omim.org/entry/600110.
Stargardt Disease. American Macular Degeneration Foundation. 2014; https://www.macular.org/stargardt-disease. Accessed 6/4/2014.