Stargardt disease


Stargardt disease

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 31282
ICD10 =
ICD9 =
ICDO =
OMIM = 248200
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Stargardt 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. [http://www.mdsupport.org/library/stargrdt.html Stargardt Disease] ]

Presentation

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] ]

History

The disease was discovered in 1909 by Karl Stargardt, an ophthalmologist in 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.

Notable cases

George W. Bush, in June 2006, teased a reporter named Peter Wallsten who 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.

References

External links

* [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


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Stargardt disease — An hereditary eye disease that is one of the most frequent causes of macular degeneration in childhood. (The macula is the part of the retina that is responsible for central vision.) The disease has its onset between the ages of 7 and 12 years,… …   Medical dictionary

  • Stargardt disease (macular degeneration) — Star·gardt disease (macular degeneration) (shtahrґgahrt) [Karl Bruno Stargardt, German ophthalmologist, 1875–1927] see under disease …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Stargardt — Karl, German ophthalmologist, 1875–1927. See S. disease …   Medical dictionary

  • Stargardt macular degeneration — see under disease …   Medical dictionary

  • Morbus Stargardt — Klassifikation nach ICD 10 H35.5 Hereditäre Netzhautdystrophie …   Deutsch Wikipedia

  • Tangier disease — Classification and external resources ICD 10 E78.6 ICD 9 272.5 …   Wikipedia

  • enfermedad de Stargardt — Eng. Stargardt s disease Alteración macular bilateral, simétrica y progresiva que se presenta en jóvenes de ambos sexos en la primera y segunda décadas de la vida y en la que se produce una atrofia de los fotorreceptores y del epitelio… …   Diccionario de oftalmología

  • ABCA4 — ATP binding cassette, sub family A (ABC1), member 4, also known as ABCA4, is a human gene.cite web | title = Entrez Gene: ABCA4 ATP binding cassette, sub family A (ABC1), member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • Foundation Fighting Blindness — Formation 1971 Type Non Profit Purpose/focus Fund research that will lead to preve …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.