Genetic Mutation Identifies High Risk of Macular Degeneration

A rare genetic mutation has been identified that predicts a high risk of macular degeneration.

Macular degeneration is seen as the leading cause of blindness in the elderly.  Having a genetic mutation discovered that may predict the risk of the eye disease will provide insight into developing new treatments and in prevention.

Previous research had identified genetic variants that predict the risk of macular degeneration.  However, a significant portion of people without the disease also have these variants.  The discovery of a rare genetic mutation predicts a very high risk of the eye disease.  More importantly, this genetic mutation is extremely uncommon in people who do not have macular degeneration.

Researchers have indicated while this mutation is not common, it can help identify people who need to be screen more closely for early onset of macular degeneration.  It also provides insight into developing new treatments for people shown to be at high risk of developing macular degeneration.