Skip to Content Skip to Navigation
18th March 2024 Latest News Eye Health

Keeping an eye on childhood glaucoma

Emmanuelle Souzeau   cropped

Glaucoma is a silent, hereditary disease that if left untreated, can lead to vision loss and in the worst case, blindness.

The good news is, with early detection and treatment, the condition can be managed and the chance of vision loss decreased.

Dr Emmanuelle Souzeau from Flinders University has been working hard to improve genetic testing for families with glaucoma, thanks to her research project proudly supported by The Hospital Research Foundation Group.

She used a registry of over 9000 patients with glaucoma and their family members across Australia and New Zealand to:

  • Better define the symptoms that can occur in combination with some genetic diagnoses of childhood glaucoma
  • Assess patients’ and healthcare professionals’ attitude toward a new genetic test for those at risk of adult-onset glaucoma (called polygenic risk scores)
  • Investigate the impact of being diagnosed with childhood glaucoma and the effect on parents.

“My project reported on the different types of childhood glaucoma in our large Australian registry,” Dr Souzeau said.

“We identified a genetic diagnosis in 25% of families and reclassified diagnosis in 10% of families, highlighting the benefits of genetic testing and disease management.

“In our second aim, we reported that 70% of individuals with or without adult-onset glaucoma indicated an interest in polygenic risk testing for glaucoma. A survey done with healthcare professionals showed support toward the test but also highlighted a need for education as well as clear recommendations to guide decision making.

“We have also developed patient-friendly reports for polygenic risk score results based on people’s feedback and preferences.

“Finally, when it came to the impact of a childhood glaucoma diagnosis, our research highlighted the importance of coping strategies for emotional wellbeing.

“The transition from childhood to adulthood was identified as a critical period in term of developing autonomy and in disease management.”

With these findings, Dr Souzeau is working towards developing best strategies to communicate polygenic risk results for glaucoma patients, exploring the impact of receiving results and developing educational material for healthcare professionals.

Knowing how important early diagnosis is, Dr Souzeau will also be exploring the barriers of genetic testing and how to improve access to genetic services for families with childhood glaucoma.

“We often think of glaucoma as a condition that affects older people, but it can actually affect people of any age, including babies, children and young adults,” Dr Souzeau said.

“The support from THRF Group has allowed me to learn more from families who experience glaucoma, meet other researchers to collaborate on projects and have the opportunity to present our findings at international conferences!”