New Genetic Mutation Behind Childhood Glaucoma Identified
An international team led by Harvard Medical School scientists at Mass Eye and Ear and Boston Children’s Hospital has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, according to a Harvard Medical School research report.
Through advanced genome-sequencing technology, the researchers found a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with childhood glaucoma histories. The researchers then confirmed their findings in a mouse model that possessed the genetic mutation and went on to develop symptoms of glaucoma driven by a previously unknown disease mechanism.
The new findings, published Dec. 1 in the Journal of Clinical Investigation, could lead to improved screening for childhood glaucoma and earlier and more targeted treatments to prevent vision loss in children with the mutation, according to the study’s authors.