Web Resources

http://www.macular.org/stargardts.html
http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration
http://www.mdsupport.org/library/stargardt2.html

Inheritance

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Medical Information

Stargardt Disease

Background and History

This disorder is named after Karl Bruno Stargardt, the German ophthalmologist who first reported it.  It is among the more common heritable disorders causing vision loss in children and young people. 

Clinical Correlations

Stargardt disease is a hereditary disorder of the retina (light processing tissue lining the inside of the eye) and its main effects are in a part of that tissue called the macula.  This is a special part of the retina containing the highest concentration of light-sensing cells, called photoreceptors (rods and cones) and is most important in fine resolution of vision, such as required for reading.  For unknown reasons, these rods and cones degenerate over time, beginning usually in the first decade of life.  Useful vision (20/20-20/40) can remain for some years but eventually enough photoreceptors are lost that vision may degrade to 20/200 -20/400 or rarely worse.  There may be some deterioration in the quality of vision in dim light but nightblindness does not occur.  Color vision though is lost.

There are no other ocular or systemic abnormalities.  

Genetics

Mutations in several genes cause Stargardt disease.  In some families the inheritance pattern is autosomal dominant in which case an affected parent can pass the mutation (and disease) directly to his/her children (each child has a 50% chance of inheriting the mutation) and the family pattern is vertical.  More commonly, though, the pattern is one of autosomal recessive inheritance in which case both parents (who are not affected) can pass the mutation to their children and they can expect that 1 in 4 children will inherit Stargardt disease. 

Diagnosis and Prognosis

This disease has no impact on general health and longevity is normal.  The diagnosis is made by an ophthalmologist based on the family history, the results of an eye examination, and the electroretinogram (ERG), an electrical test that measures the function of the rods and cones.  No treatment is available for this disorder but low vision aids can be helpful for many years.  Vocational counseling should be offered to young patients.