A large-scale international study led by Flinders University has identified genetic contributors to juvenile glaucoma.
Published today in a major US journal JAMA Ophthalmology, This study represents another important step toward treating multiple forms of glaucoma with the help of genetic testing. Glaucoma usually affects older people, but many people are unaware that it can also affect younger people.
Eye experts at Flinders University, led by Professor Jamie Craig, Dr Emmanuel Suzo and PhD candidate Georgina Maxwell, say the latest findings add to the growing body of evidence about the causes of this leading cause of blindness around the world.
This study highlights the potential of routine testing. FOXC1 Duplications are seen as part of the genetic testing process, especially in families with a history of this form of juvenile glaucoma. ”
Mrs Georgina Maxwell, Corresponding Author, Ophthalmology Genetic Counselor, Flinders University, South Australia
“This is important information for families as well. FOXC1there is a up to 50% chance that their first-degree relatives (parents, siblings, children) will also be affected.
“Identifying families at risk allows for early monitoring and treatment, which can help prevent vision loss from glaucoma.”
Juvenile open-angle glaucoma (JOAG) is a type of early-onset primary glaucoma that affects people under the age of 40. It has previously been associated with other genetic causes.
Prior to this latest study, FOXC1 The overlap and its manifestations had not been evaluated in a large cohort of patients diagnosed with JOAG.
A total of 594 JOAG patients were tested from the US (Massachusetts Eye and Otorhinolaryngology) and Australian and New Zealand Advanced Glaucoma Registry (ANZRAG) genetic databases, and 20 individuals from 10 families were identified by this testing. FOXC1 Reproduction.
World-leading glaucoma expert Professor Jamie Craig, co-director of the Eye and Vision Group at Flinders Health and Medical Research Institute (FHMRI), says early detection, diagnosis and treatment of glaucoma risk is key.
“Across these two large databases, we found that this particular gene duplication appeared frequently and was associated with this often difficult-to-diagnose condition,” said Craig, Matthew Flinders Distinguished Professor in the School of Medicine and Public Health.
“Glaucoma is a serious disease with devastating consequences, but early symptoms are undetectable.
“Fortunately, glaucoma is a treatable disease if detected early. Eye drops, lasers, and surgery are all effective interventions that can stabilize, slow, or prevent disease progression.”
Suzo added that juvenile glaucoma is often underdiagnosed.
“Identifying the genetic cause in these families is critical for diagnosis and prevention,” said Dr Suzo, who is screening the ANZRAG database at Flinders University.
Historically, detecting glaucoma in its early stages has been difficult, as has predicting which glaucoma patients will progress to severe vision loss. Patients who would never develop severe glaucoma are unnecessarily tested, monitored and treated, while some patients whose vision could have been saved are treated too late.
Glaucoma affects an estimated 80 million people worldwide, including an estimated 300,000 Australians, many of whom may not be aware they have glaucoma.
Anyone can develop glaucoma, but the incidence increases with age. According to Glaucoma Australia, around 1 in 10,000 babies are born with glaucoma, and by the age of 40 around 1 in 200 will have glaucoma, rising to 1 in 8 by the age of 80.
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Reference magazines:
Maxwell, G.E. others. Association between FOXC1 duplication and juvenile open-angle glaucoma. JAMA Ophthalmology. doi:10.1001/jamaophysicalmol.2026.1183. https://jamanetwork.com/journals/jamaophysical/article-abstract/2848368
