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Stargardt's Disease: A Form of Vision Loss

👤by MedicineNet.com 0 comments 🕔Monday, December 1st, 2014

Medical Author: Melissa Conrad Stoppler, MDMedical Editor: Jay W. Marks, MD

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. In Stargardt's disease, the symptoms of vision loss 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.

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).

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).

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.

Medically Reviewed by a Doctor on 12/1/2014

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