- Stargardt disease
Name = PAGENAME
DiseasesDB = 31282
OMIM = 248200
Stargardt disease, or fundus flavimaculatus, has been vastly reported as an autosomal
recessivegenetic 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. [http://www.mdsupport.org/library/stargrdt.html Stargardt Disease] ]
Those with Stargardt 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.
Some patients are able to drive. Many patients use magnifiers to help them see, and wear sunglasses to slow the development. [ [http://www.mdsupport.org/library/stargardt2.html Stargardt's Disease: Information for Patients and Their Families] ] Some doctors have recommended colored lenses that filter out wavelengths shorter than 600 nm; the light wavelengths that stimulate rod vision. [ [http://www.mdsupport.org/library/stargardt.html Stargardt's Patients Need Special Light Protection] ]
The disease was discovered in 1909 by
Karl Stargardt, an ophthalmologistin Berlin. [WhoNamedIt|synd|2306] [K. B. Stargardt. Über familiäre, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Archiv für Ophthalmologie, 1909, 71: 534-550.]
In 1997, it was discovered that mutations in the Gene|ABCA4 gene cause Stargardt. 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.
George W. Bush, in June 2006, teased a reporter named Peter Wallstenwho was wearing sunglasses due to Stargardt. The reporter later explained that the President had no way of knowing, and that he was not offended. [ [http://abcnews.go.com/Politics/story?id=2077873&page=1 After Sunglasses Gaffe, Bush Apologizes to Legally Blind Reporter] ]
Another notable case is US distance runner
Marla Runyan, who, in 2000, became the first legally blind athlete to make the US Olympic team. Runyan, who had previously won seven Paralympic medals, finished eighth in the 1,500 meter finals, the top finish by an American.
Also, in September 2008, at the Beijing Paralmpics games, Jason Smyth, representing Ireland, won 2 Gold medals, in the 100m and 200m, with paralmypic world record times.
* [http://www.mdsupport.org/library/stargrdt.html Stargardt Disease] - complete description with links to further information
* [http://www.medstudents.com.br/raredi/raredi4.htm Rare Disorders: Stargardt's Disease] - a very comprehensive article
* [http://www.macular.org/stargardts.html Stargardt's Disease] - from the American Macular Degeneration Foundation
* [http://www.lowvision.org/stargardts.htm Understanding Stargardt's]
* [http://www.theretinasource.com/conditions/stargardts.htm Stargardt's Disease] - from TheRetinaSource
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Look at other dictionaries:
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