Genetic mutation linked to childhood glaucoma

Thursday, 19 January, 2023

Genetic mutation linked to childhood glaucoma

A team of international researchers, led by the Mass Eye and Ear research group at Harvard University, has discovered a new genetic mutation that could lead to the development of severe childhood glaucoma. Their breakthrough, described 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.

Childhood, or congenital, glaucoma is a rare but serious disease that presents in children as early as birth and as late as three years of age. Despite its rarity, childhood glaucoma is responsible for 5% of cases of child blindness worldwide.

When research began 30 years ago, scientists were only able to identify regions of the genome affected in glaucoma. Thanks to advances in genomic technology, researchers gained the ability to review the complete genetic makeup of individuals with and without glaucoma to determine which specific genetic mutations play a role in the disease. Later collaborations with colleagues at Flinders University sought evidence of any childhood glaucoma families with thrombospondin mutations.

Through advanced genome-sequencing technology, led by Flinders and other Australian ophthalmology experts, 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.

“This is a very exciting finding for families affected by childhood glaucoma,” said Janey L Wiggs, Associate Chief of Ophthalmology Clinical Research at Mass Eye and Ear as well as the Vice Chair for Ophthalmology Clinical Research and Paul Austin Chandler Professor of Ophthalmology at Harvard Medical School.

“With this new knowledge, we can offer genetic testing to identify children in a family who may be at risk for the disease and start disease surveillance and conventional treatments earlier to preserve their vision. In the future, we would look to develop new therapies to target this genetic mutation.”

“This work highlights the power of international collaborations,” said study co-author Associate Professor Owen Siggs, from Flinders University. “There’s such incredible genetic diversity across the globe, and comparing this information is becoming more and more critical for discoveries like this.”

Co-author Lachlan Wheelhouse Knight, also from Flinders, said that with about 1 in 30,000 born with the condition in Australia and other largely European countries, the international collaboration means more individuals can be captured in the data collaboration. The researchers will continue to look for new genes associated with childhood glaucoma in the hopes of one day developing very comprehensive screening.

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