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Researchers ID genetic mutation associated with high risk of age-related macular degeneration
Date:10/24/2011

mutation is associated with loss of function of the CFH protein and its discovery suggests that loss of CFH function can drive AMD risk. It was associated with advanced AMD with visual loss and many of the patients also had numerous drusen, which are the early hallmarks of AMD.

"The discovery of this rare but penetrant variant strongly associated with disease also points the way to developing new and effective treatments for high risk individuals," said Seddon.

Collaborators in this research included investigators from Massachusetts General Hospital and Johns Hopkins University.


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Contact: Lori Shanks
ljshanks@partners.org
617-534-1604
Brigham and Women's Hospital
Source:Eurekalert

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