December 2, 2022: Using advanced genome sequencing technology, researchers discovered a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with a history of childhood glaucoma. The researchers then confirmed their findings in a mouse model that carried the gene mutation and went on to develop glaucoma symptoms driven by a previously unknown disease mechanism.

The new findings, published December 1 in the Journal of Clinical Investigation, could lead to better detection of childhood glaucoma and earlier, more targeted treatments to prevent vision loss in children with the mutation.

Childhood, or congenital, glaucoma is a rare but serious disease that occurs in children from birth to 3 years of age. Despite its infrequency, childhood glaucoma is responsible for 5% of childhood blindness cases worldwide.

Glaucoma causes irreversible damage to the optic nerve of the eye, often due to increased pressure within the eye (intraocular pressure, or IOP). In adults, this damage can occur over time without causing symptoms, which is why the disease is often referred to as “lsneaky sight drone».

Despite its infrequency, childhood glaucoma is responsible for 5% of childhood blindness cases worldwide.

However, children and infants with childhood glaucoma can be born with severe disease and vision loss or lose it later in childhood due to elevated IOP. This increased pressure not only damages the optic nerve, but can also affect other structures in the child’s eye, such as the cornea. Children with childhood glaucoma usually require surgery starting in the first three to six months of life, followed by several more operations throughout their childhood.

Childhood glaucoma often has a strong hereditary component, and often several family members are affected by the disease.

By better understanding the genes involved, genetic testing can give affected families peace of mind that their child may be at risk of developing the disease.

The Research was led by Wiggs in 2021 used a data set of more than 34,000 adults with glaucoma to identify 127 disease-associated genes.