Australian researchers identify gene associated with juvenile glaucoma

New research published in JAMA Ophthalmology has outlined a link between duplication of the FOXC1 gene and juvenile open-angle glaucoma (JOAG).

Scientists from Flinders University analysed genetic testing of 594 JOAG patients from the US, Australia and New Zealand. They found that 20 individuals from 10 families had a duplication of the FOXC1 gene.

Flinders University PhD candidate and study co-author, Giorgina Maxwell, shared that identifying family members who are at risk of JOAG allows for earlier monitoring and treatment – helping to prevent vision loss from glaucoma.

“This study highlights the potential for routine testing of FOXC1 duplication as part of the genetic testing process, particularly in families with a history of this form of juvenile glaucoma,” she said.

Maxwell added that if an individual has a duplicate FOXC1 gene, there is an up to 50% chance that their first-degree blood relatives (parents, siblings and children) will also have an extra copy of the gene.

Flinders University professor of ophthalmology, Jamie Craig, highlighted that glaucoma is treatable if identified early.

“Eye drops, laser and surgery are all effective interventions that can stabilise, slow or prevent disease progression,” he said.