Tuesday, July 31, 2012

So What is Stargardt's Disease?


So here are some quick facts about Stargardt's Disease.

Facts

  • Stargardt's Disease also sometimes referred to as Fundus Flavimaculatus is a family of rare inherited retinal eye diseases in the form of juvenile Macular Degeneration.
  • Macular Degeneration or Dystrophy is a progressive loss of central vision.
  • Named after the German Ophalmalogist Karl Stargardt who first diagnosed it in the early 1900s.
  • There are three types of Stargardt's disease:
STGD 1: Autosomal Recessive form (majority of cases); caused by a mutation in the ABCA4 gene.
STGD 3: Autosomal Dominant form; caused by a mutation of the ELOVL4 gene shares similarities to Best's Disease.
STGD 4: Autosomal Dominant form;    caused by a mutation on Chromosome 4.
  • Generally occurs in an estimated 1 out of 10,000 children.
  • Most cases are diagnosed in childhood/adolescence (6 - 20 years old).
  • The mutated genes cause a Vitamin A fatty acid waste (lipofuscin) to be deposited on the macula of the eye. Over time the accumulation of this waste causes damage to the macula which leads to loss of central vision.
Symptoms & Progression
  • Blurry or distorted vision
  • Blind Spots (central scotoma)
  • Difficulty reading or seeing detail
  • Light adaptation issues
  • Difficulty seeing in low lighting 
  • Difficulty recognizing familiar faces. 
  • Color vision also may be lost (late stage)
  • Loss of central vision, peripheral vision stays
  • When a visual acuity of 20/40 is reached vision rapidly deteriorates to 20/200
  • By age 50 most patients' visual acuity is 20/200 (legally blind) or worse.
  • Can not be corrected with glasses or lenses.
Diagnostic Tests
  • Visual Acuity Test
  • Visual Field Test
  • Fluorescein Angiography
  • Color vision testing
  • Visual Electrodiagnostic Testing
  • Electrooculography
  • Electroretinography
  • Genetic Testing
Treatment & Other 
  • At present time there is no cure.
  • Patients greatly helped with low vision aids
  • Encouraged to where sunglasses or glasses with tinted lenses with UV protection
  • Avoid excessive amounts of Vitamin A
If there are any things I should add or things that need to be corrected don't be afraid to leave a comment.



References

American Macular Degeneration Foundation. Stargardt's Disease. Retrieved July 30, 2012, from http://www.macular.org/stargardts.html


Foundation Fighting Blindness. Stargardt's Diease. Eye Conditions. Retrieved July 29, 2012, from http://www.blindness.org/index.php?option=com_content&view=article&id=53&Itemid=74


Watt, O.D., W. S. Stargardt's Disease Testing. Macular Degeneration Support. Retrieved July 26, 2012, from http://www.mdsupport.org/library/testing.html


Windsor,O.D., F.A.A.O., L., & Windsor,O.D., F.A.A.O., R. Understanding Stargardt’s Disease. The Low Vision Centers of Indiana. Retrieved July 29, 2012, from http://www.eyeassociates.com/images/understanding_stargardt.htm



     
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