Congenital glaucoma is a rare but serious disease that presents in children as early as birth and as late as 3. Despite its rarity, the disease is responsible for 5% of child blindness cases worldwide.

Researchers from Massachusetts Eye and Ear, Massachusetts General Brigham, and Boston Children's Hospital used advanced genome-sequencing technology in three ethnically and geographically diverse families with childhood glaucoma histories. They found that the THBS1 gene was responsible for glaucoma and confirmed their findings in a mouse model that possessed the genetic mutation and went on to develop disease symptoms (The Journal of Clinical Investigation, December 1, 2022).

THBS1 is involved in angiogenesis and the formation of tissues. Through their studies, the researchers learned the mutation caused abnormal thrombospondin proteins to accumulate in the intraocular drainage structures of the eye involved with regulating intraocular pressure (IOP), which leads to a buildup of pressure that damaged the optic nerve and led to the loss of retinal ganglion cells, thereby causing vision loss.

The new knowledge could mean genetic testing to identify children in a family who may be at risk for the disease and earlier disease surveillance, as well as the development of new therapies to target the genetic mutation, the authors said.

The scientists now plan to determine if other THBS1 mutations are involved in adult-onset disease, like primary open-angle glaucoma, or milder forms of the disease if the mutation is not as pronounced.