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NEI Statement

Stargardt's Gene Discovery

National Eye Institute
National Institutes of Health

A gene that causes Stargardt's disease, the most common hereditary macular degeneration, has been identified by National Institutes of Health grantees, intramural investigators, and other researchers. Stargardt's disease affects central vision primarily in juveniles. The findings appear in the March issue of Nature Genetics.

Identifying the gene causing Stargardt's disease is a significant medical discovery. This discovery marks the third instance in which teams of investigators, including scientists supported by the National Eye Institute, have linked specific genes or gene locations to macular disease. Other recent gene findings relate to Sorsby's fundus dystrophy and Malattia Leventinese, both diseases of the macula. The discovery of the Stargardt's gene may bring researchers closer to finding the cause of age-related macular degeneration, which results in serious visual disability and blindness affecting about 1.7 million older Americans.

It is estimated that 25,000 Americans have Stargardt's disease, which usually leads to legal blindness. The disease typically develops in those between ages six and 15, although gradual vision loss can occur in adults in their 20s and 30s.

NEI is devoting approximately 20 percent of its budget to macular degeneration-related research.

May 1998