Stargardt's Disease: A Hereditary Form of Vision Loss

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: Jay W. Marks, MD
    Jay W. Marks, MD

    Jay W. Marks, MD

    Jay W. Marks, MD, is a board-certified internist and gastroenterologist. He graduated from Yale University School of Medicine and trained in internal medicine and gastroenterology at UCLA/Cedars-Sinai Medical Center in Los Angeles.

What is Stargardt's disease?

Stargardt's disease (also known as Stargardt's macular dystrophy) is a hereditary, or inheritable, form of the eye condition known as macular degeneration. In macular degeneration, the macula (the center part of the retina of the eye where vision is sharpest) deteriorates, leading to a loss in central vision that interferes with reading, driving, and other daily activities. The age of onset of symptoms of vision loss is often begin as early as age 6 or 7. Since the macula is also responsible for our sharpest color vision, those with Stargardt's disease also have a decrease in color vision.

How common is Stargardt's disease?

The disease is named for a German ophthalmologist, Karl Stargardt, who described the condition in the early 20th century. About 25,000 people in the U.S. have Stargardt's disease, which usually follows a rapidly progressive course that can lead to legal blindness, although peripheral vision generally remains intact and the overall degree of vision loss varies among those affected. The retinal damage often also leads to an increase in sensitivity to light (photophobia).

Are there different types of Stargardt's disease?

Different forms of Stargardt's disease have been described. The most common form, representing about 90% of cases, appears to be inherited in an autosomal recessive manner, meaning that each parent must pass a copy of the defective gene to a child in order for the child to be affected. The genetic defect responsible for this form of the condition has been characterized as a mutation (change) in a gene called the ABCA4 (also termed the ABCR gene) on chromosome 1. Other, less common forms of Stargardt's disease have been described that appear to be inherited in an autosomal dominant manner (a child may become affected if only one parent passes on a defective gene).

What are treatments for Stargardt's disease?

There is no cure that can restore vision in people with Stargardt's disease. Low vision aids and implementation of an appropriate learning and working environment are important to help maintain the best possible level of function. Ongoing research and clinical trials are examining possible treatments for this condition and other forms of macular degeneration. These include gene replacement therapy, stem cell treatments, and substances that reduce the buildup of toxins in the retina.

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REFERENCE:

United States. National Eye Institute. National Institutes of Health. "Facts About Stargardt Disease." April 2015. <https://nei.nih.gov/health/stargardt/star_facts>.

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Reviewed on 12/21/2017 12:00:00 AM

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