Technology Gene discovery sheds light on glaucoma in children

Gene discovery sheds light on glaucoma in children

Glaucoma, a disease linked to increased pressure inside the eye, most commonly occurs in people over 50. But a more aggressive form of the disease can affect children from birth. Called primary congenital glaucoma, it can require multiple operations and a lifetime of daily eye drop medication.

Now ophthalmology experts at Flinders University have played a pivotal role in discovering a new genetic cause for this leading cause of blindness in children. The disease has been linked to mutations in a specific gene which result in a drainage channel not developing properly. The result is elevated eye pressure over time. The research is also an important clue for understanding adult-onset glaucoma, which affects 3 per cent of Australians over the age of 50, or about 60 million worldwide.

This discovery paves the way for a new genetic test for children and families with childhood glaucoma. It gives new reproductive options to families with a history of the disease and a pathway to better treatments for both adult and childhood glaucoma.

To tackle important health issues like childhood blindness we need to keep Australia clever. And that means ensuring our universities continue to have funding to pursue life-changing research like this.