New Genetic Mutation Behind Childhood Glaucoma Identified

An international team of researchers led by Mass Eye and Ear, a member of Mass General Brigham and Boston Children’s Hospital, has discovered a new genetic mutation that could be the root cause of severe cases of childhood glaucoma. Read on for details:

Boston: An international team of researchers led by Mass Eye and Ear, a member of Mass General Brigham and Boston Children's Hospital, has discovered a new genetic mutation that could be the root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob children of their vision by the age of three.

The researchers discovered a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with a history of childhood glaucoma using advanced genome-sequencing technology.

The researchers then confirmed their findings in a mouse model that had the genetic mutation and developed glaucoma symptoms due to a previously unknown disease mechanism. (ANI)