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Researchers find gene that causes Stargardt blindness
March 3, 1997
Web posted at: 2:40 p.m. EST
FREDERICK, Maryland (CNN) -- Researchers have pinpointed a gene that causes Stargardt disease, a rare, inherited form of macular degeneration that strikes younger people.
The discovery may lead to the development of a test for the disease, which causes blindness in 25,000 young Americans, and new treatments for macular degeneration, the leading cause of blindness in Americans over 60 years old.
The study was published Sunday in the March issue of Nature Genetics by 19 researchers from the University of Utah's Eccles Institute of Human Genetics, Baylor College of Medicine in Houston, Johns Hopkins University and the National Cancer Institute.
Geneticist Mark Leppert, who heads the Utah team, is hopeful the discovery will lead to a test for the Stargardt disease. Presently there is no such test.
The victims, commonly between ages 6 and 15, will complain of poor vision, but doctors often are unable to determine the cause until the disease has worsened. Within five years, the victim has lost central reading vision and is legally blind.
Leppert hopes the discovery will also provide clues about what causes the more common form of macular degeneration in older people.
Macular degeneration, for which there are few treatments, damages the part of the eye that is responsible for sharp, frontal vision.
Roughly 1.7 million Americans develop age-related macular degeneration, according to the National Institutes of Health. That's far fewer than suffer from cataracts. But cataracts are more easily treated. So macular degeneration ends up causing more blindness in older people.
The newly identified gene is located in the retina, the rear interior of the eyeball. A retina affected by macular degeneration exhibits an accumulation of fatty substances.
The researchers suspect that people with a mutated version of this gene lack a pump that helps move these fatty substances out of the retina.
"Eventually it would be nice if we could identify drugs ... that could reverse or slow down the process once it begins," said geneticist Dr. Michael Dean.
Correspondent Eugenia Halsey contributed to this report.
Related sites:
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- Blindness Resource Center: Eye Diseases and Conditions
- Macular Degeneration Foundation's Eyesight Informer
- National Institutes of Health
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