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New Gene Mutation for Childhood Glaucoma

Working together, researchers from the United States and Australia may have found a new genetic mutation responsible for severe childhood glaucoma, which can cause children to lose vision by the age of three.

Using cutting-edge genome-sequencing techniques, the researchers found a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with childhood glaucoma histories.

They then confirmed their findings in a mouse model.

The discovery was made by an international team of researchers led by Mass Eye and Ear, a division of Mass General Brigham, and Boston Children’s Hospital.

Co-authors from the study include five Australians: Associate Professor Owen Siggs (Flinders University, Garvan Institute of Medical Research), Lachlan Knight and Prof Jamie Craig (Flinders University), Dr Sandra Staffieri (Centre for Eye Research Australia, University of Melbourne, Royal Children’s Hospital, Melbourne) and Dr Jonathan Ruddle (Royal Children’s Hospital, Melbourne).

Assoc Prof Siggs said the work highlighted the power of international collaborations.

“There’s such incredible genetic diversity across the globe, and comparing this information is becoming more and more critical for discoveries like this.”

The new findings, published in the Journal of Clinical Investigation in December,1 could result in enhanced paediatric glaucoma screening as well as earlier and more focussed treatments to prevent vision loss in children with the mutation.

“This is a very exciting finding for families affected by childhood glaucoma,” said another of the study authors, Dr Janey L. Wiggs, from Mass Eye and Ear and Harvard Medical School, who started this line of inquiry 30 years ago.

“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,” she told Ophthalmology Breaking News.2 “

In the future, we would look to develop new therapies to target this genetic mutation,” Dr Wiggs said.

Childhood glaucoma, also known as congenital glaucoma, is a rare but dangerous condition, thought to be responsible for 5% of blindness in children around the world. It can appear in children as soon as they are born, or as old as three.

Children with this condition often need many operations, beginning in the first few months of life. There is frequently a significant genetic component to childhood glaucoma, and the disease frequently affects several family members at once.

Dr Wiggs and her US team first examined exome sequences from an American family of European- Caucasian ancestry who had participated in an earlier research project to better understand the genetic mutations in childhood glaucoma.


  1. Fu, H. et al., Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma, J Clin Invest. 2022;132(23):e156967. https://doi.org/10.1172/JCI156967.
  2. Ophthalmology Breaking News ‘Researchers Discover New Gene Mutation Behind Childhood Glaucoma, 7 December 2022, avail at: https:// ophthalmologybreakingnews.com/researchers-discover-newgene- mutation-behind-childhood-glaucoma-

They discovered a striking and novel variant in thrombospondin-1. Neither extensive population genetic databases nor individuals without childhood glaucoma had this mutating gene.