Stargardt's disease
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| Stargardt's disease Classification and external resources | |
| OMIM | 248200 |
|---|---|
| DiseasesDB | 31282 |
Stargardt's disease, or fundus flavimaculatus, has been vastly reported as an autosomal recessive genetic form of juvenile macular degeneration that causes progressive vision loss, although several dominant pedigrees have been reported. It is the most common inherited juvenile macular degeneration.[1]
Contents |
Presentation
Those with Stargardt's disease are sensitive to glare; overcast days offer little relief. As the disease progresses, it can cause pain and diminishing sight. Vision is impaired first at the center, leaving peripheral vision intact. Symptoms usually appear before age 20. Symptoms include wavy vision, blind spots, blurriness, and difficulty adapting to dim lighting.[1]
Some patients are able to drive. Many patients use magnifiers to help them see, and wear sunglasses to slow the development.[1] Some doctors have recommended colored lenses which filter out the light wavelengths which stimulate rod vision.[1]
History
The disease was discovered in 1909 by Karl Stargardt, an ophthalmologist in Berlin. [1][1]
In 1997, it was discovered that mutations in the ABCA4 gene cause Stargardt's. The mutations cause the production of a dysfunctional protein that cannot perform energy transport to and from photoreceptor cells in the retina. The photoreceptor cells then degenerate, causing vision loss.[1]
Notable cases
George W. Bush, in June 2006, teased a reporter named Peter Wallsten who was wearing sunglasses due to Stargardt's. The reporter later explained that the President had no way of knowing, and that he was not offended. [1]
References
External links
- Rare Disorders: Stargardt's Disease - a very comprehensive article
- Stargardt's Disease - from the American Macular Degeneration Foundation
- Understanding Stargardt's
- Stargardt's Disease - from TheRetinaSource
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