Possible Cause for Age-Related Macular Degeneration Disorder Linked to Gene

By Adam Hepburn and Derek Dombrowski
Washington, D.C.
02 August 2005

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One in 50 people will lose their sight because of age-related macular degeneration by the time they are 65.  But, new information into how a single gene behaves could lead to a possible treatment. 
Without any warning Robert Burch went blind in his right eye.  "All of a sudden that eye was finished.  And it happens like that, and it's the scariest thing in the world," he said.

After visiting doctors, Burch learned he had lost his sight in that eye due to age-related macular degeneration, or AMD.  Like other sufferers, he constantly worries that AMD will affect his other eye too, claiming his vision completely.  So far, treatment has been effective for Burch.  
AMD is caused by damage to the small central part of the eye's retina, also known as the macula.  And there is no cure.

Now, for the first time, researchers at Columbia University have found a common inherited mutation in a gene called "Factor H".  It plays a major role in AMD. 

Rando Allikmets, Director of the Molecular Genetics Laboratory at Columbia, says, "Our research has defined the gene that is involved in at least a half, possibly in the majority, of age-related macular degeneration." 

Allikmets and his team of international researchers discovered that the mutation in the "Factor H" gene led to an uncontrolled inflammation inside the eye, resulting in AMD.  But the mutation alone does not cause the disorder.  Something has to trigger the faulty gene. He also adds, "We are pretty certain that infection, or a group of infections -- a group of infectious agents -- triggers the process."

Although identifying what leads to AMD is an important step, Allikmets admits it could still take years to find a way to prevent vision loss in older people.