Genetics don't always lead to vision loss and blindness - UPI.com

Genetics aren't necessarily destiny for those with mutations thought to always cause inherited blindness, a new study says.

Fewer than 30% of people with these genetic variants wind up blind, even though the faulty genes had been thought to cause blindness in 100% of those with them, researchers said in findings published Monday in the American Journal of Human Genetics.

The results could shake up a central belief in genetics, that faulty genes always lead to rare inherited disorders. These disorders are called Mendelian diseases, named after the famed genetics researcher Gregor Mendel.

"These findings are striking and suggest that the traditional paradigm of Mendelian diseases needs to be updated," senior researcher Dr. Eric Pierce, director of the Ocular Genomics Institute at Mass Eye and Ear in Boston, said in a news release.

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