Macular Degeneration

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Genetics

Macular Degeneration has many different clinical presentations, and just as many different associated genetic abnormalities. No single genetic variation has been found that would predispose someone to developing macular degeneration.

One interesting genetic variant involves the gene that is generally associated with Stargardt disease, AKA juvenille macular degeneration. That is the gene that codes for the ATP binding casette transporter protein, or ABCR. Variants on this gene can be found in people with Stargardt, macular degeneration and RP. All very different clinical presentations, but with a common gene. One good paper that describes this was in the American Journal of Human Genetics (AJHG). To find this article, search in scholar.google.com for: 
The American Journal of Human Genetics, Volume 67, Issue 4, October 2000, Pages 800-813
This is an important concept, for it shows how all of the different retinal dystrophies have much in common. If you have macular degeneration, and hear of some amazing treatment that someone develops for retinitis pigmentosa, then it may be news you can use.

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