Stargardt disease

Is genetic testing available for Stargardt disease?

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 on 05-01-20

How is Stargardt disease inherited?

Stargardt disease is most commonly inherited in an autosomal recessive manner. 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. 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 on 05-01-20

Should the child of a person with Stargardt disease be evaluated?

While vision care and eye exams should be a part of every child's routine medical care, meeting with a specialist (such as an ophthalmologist or optometrist) is recommended for children with a family history of a genetic eye disease. A specialist can advise parents regarding if and when a child should be evaluated (and how often); and can recommend specific types of eye exams that may be beneficial or appropriate for children with a family history of Stargardt disease.

Stargardt disease is most commonly inherited in an autosomal recessive manner. Therefore in most cases, the child of a person with autosomal recessive Stargardt disease will be an unaffected carrier, and generally only at risk to develop the condition if their other parent is a carrier (or is affected). If an affected parent has autosomal dominant Stargardt disease (which is rare), each of his/her children has a 50% chance to inherit the mutated gene responsible for the condition.

Genetic testing for unsymptomatic minors (children who currently don't have symptoms) is usually not recommended for Stargardt disease and other genetic conditions that are not treatable.

Last updated on 05-01-20

How might Stargardt disease be treated?

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). You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.

Last updated on 05-01-20

In-Depth Information

American Society of Gene & Cell Therapy - Eye diseases

The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.

Last updated on 04-27-20

Testing Resources

Stargardt disease testing

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.

Last updated on 04-27-20

Where To Start

Foundation Fighting Blindness

Foundation Fighting Blindness provides information about Stargardt disease and other retinal diseases.

Last updated on 04-27-20

Name: Foundation Fighting Blindness 7168 Columbia Gateway Drive, Suite 100
Columbia, MD, 21046, United States
Phone: +1-410-423-0600 TTY: 1-800-683-5551 Toll Free: 1-800-683-5555 Email: Url:
Name: American Macular Degeneration Foundation PO Box 515
Northampton, MA, 01061-0515 , United States
Phone: +1-413-268-7660 Toll Free: 1-888-MACULAR (1-888-622-8527) Email: Url:
Name: Royal National Institute of Blind People RNIB Headquarters 105 Judd Street
London WC1H 9NE
United Kingdom
Phone: 0303 123 9999 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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