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Disease Profile

Stargardt disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Elderly

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ICD-10

H35.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Stargardt macular dystrophy; Juvenile onset macular degeneration

Categories

Congenital and Genetic Diseases; Eye diseases

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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Reduced visual acuity
Decreased clarity of vision
0007663
80%-99% of people have these symptoms
Abnormal choroid morphology
0000610
Abnormal foveal morphology
0000493
Abnormality of macular pigmentation
0008002
Abnormality of visual evoked potentials
0000649
Central scotoma
Central blind spot
0000603
Color vision defect
Abnormal color vision
Abnormality of color vision

[ more ]

0000551
Macular degeneration
0000608
Nyctalopia
Night blindness
Night-blindness
Poor night vision

[ more ]

0000662
Paroxysmal involuntary eye movements
0007704
Retinal pigment epithelial atrophy
0007722
Retinal pigment epithelial mottling
0007814
Retinal thinning
0030329
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the macula
0008059
Yellow/white lesions of the macula
0030500
1%-4% of people have these symptoms
Bull's eye maculopathy
0011504
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Retinitis pigmentosa inversa
0008035

Cause

Stargardt disease occurs when the ABCA4 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[4]

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.

Testing Resources

    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).[6] You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.[6]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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

      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

      • Foundation Fighting Blindness provides information about Stargardt disease and other retinal diseases.
      • MedlinePlus Genetics 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 American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
        • 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.

          References

          1. Stargardt macular degeneration. Genetics Home Reference. November 2010; https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration.
          2. Jane Kelly. STARGARDT DISEASE 1; STGD1. OMIM. June 8, 2015; https://www.omim.org/entry/248200.
          3. Facts About Stargardt Disease. NEI. April, 2015; https://nei.nih.gov/health/stargardt/star_facts.
          4. Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. Jan 2017; 101(1):25-30. https://pubmed.ncbi.nlm.nih.gov/27491360/.
          5. Jane Kelly. STARGARDT DISEASE 3; STGD3. OMIM. September 11, 2006; https://www.omim.org/entry/600110.
          6. Stargardt Disease. American Macular Degeneration Foundation. 2014; https://www.macular.org/stargardt-disease. Accessed 6/4/2014.

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