Flinders-led study identifies new genetic contributor to juvenile glaucoma

Researchers at Flinders University have identified a new genetic contributor to juvenile open-angle glaucoma (JOAG), in findings that could strengthen the role of genetic testing in the early detection and management of the disease.

The study, published in JAMA Ophthalmology, found that duplication of the FOXC1 gene is associated with juvenile glaucoma, a form of primary glaucoma that develops before the age of 40.

The international study analysed 594 JOAG patients from genetic databases in the United States and the Australia and New Zealand Registry of Advanced Glaucoma (ANZRAG). Researchers identified 20 individuals from 10 families carrying the FOXC1 duplication.

Lead authors included Professor Jamie Craig, Dr Emmanuelle Souzeau and PhD candidate Giorgina Maxwell from the Flinders University Department of Ophthalmology.

Maxwell said the findings support the inclusion of FOXC1 duplication screening in routine genetic testing for families affected by juvenile 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.

“If a person is found to have the extra copy of the gene known as FOXC1, their first-degree blood relatives have up to a 50% chance of also having it.

“Identifying family members who are at risk allows earlier monitoring and treatment, helping to prevent vision loss from glaucoma.”

JOAG has previously been linked to several genetic causes, but the prevalence and clinical presentation of FOXC1 duplication had not been examined in large patient cohorts before this study.

Prof Craig, co-director of the Flinders Health and Medical Research Institute Eye and Vision group, said the findings reinforce the importance of early diagnosis.

“Across these two large databases, this specific genetic duplication appeared frequently, confirming its connection to this condition, which is often difficult to diagnose,” he said.

“Glaucoma is a serious disease with devastating consequence and no detectable early symptoms.

“Fortunately, glaucoma is a treatable condition if discovered early. Eye drops, laser and surgery are all effective interventions that can stabilise, slow or prevent disease progression.”

Dr Souzeau said juvenile glaucoma is often underdiagnosed and that identifying inherited risk factors is critical for prevention strategies.

“Identifying the genetic cause in these families is critical for diagnosis and prevention,” she said.

Glaucoma affects an estimated 80 million people worldwide, including around 300,000 Australians. According to Glaucoma Australia, prevalence rises significantly with age, although rare congenital and juvenile forms can affect children and younger adults.

The paper, titled Association of FOXC1 Duplications with Juvenile Open-Angle Glaucoma, was published in the 2026 edition of JAMA Ophthalmology.

This article has been republished courtesy of Insight.