Dec 1, 2022

New genetic mutation behind childhood glaucoma identified

Posted by in categories: biotech/medical, genetics

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.

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This increase in pressure not only damages the optic nerve but can also affect other structures in a child’s eye like the cornea. Children with childhood glaucoma typically require surgeries as early as the first three to six months of life, followed by several more operations throughout their childhood.

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