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Genetic diagnosis leads the way in childhood eye cancer treatment

Experts from BHP member Birmingham Women’s and Children’s NHS Foundation Trust have transformed the treatment of children’s eye cancer with pioneering new research.

Dr Trevor Cole and Dr Amy Gerrish are the first in the country to develop a treatment called Cell-free DNA for the care of retinoblastoma – a rare type of cancer which typically develops in early childhood and affects around 50 children in the UK every year.

The specialist service based in our Children’s Hospital is one of the top centres in the world for treating the condition.

Until recently, diagnosing the genetic cause of retinoblastoma was only possible if the affected eye was removed as part of a treatment. However, thanks to research carried out by our team, we can now diagnose the genetic cause without removing the eye.

This procedure involves using a tiny volume of fluid taken carefully from the inside of the eye (a tenth of a millilitre) to predict whether the child’s other eye will be affected or any of their siblings or future children. Now, genetic diagnosis is even possible during pregnancy.

Dr Cole said: “Those who carry the germline Rb1 mutation that causes retinoblastoma have a 50 per cent risk of passing it to their children. However, non-invasive prenatal diagnosis is now possible in most pregnancies shown to be at risk of inheriting the gene mutation.”

Kirstie McLaughan, from High Wycombe, mum to three-year-old Aria and Kaleb, aged nine, underwent prenatal testing at our hospital when she was pregnant with her daughter.

“My partner, Callum, was diagnosed with retinoblastoma as a child, so we knew there was a risk that our children would develop the condition. In June 2012, my son was diagnosed with retinoblastoma, and we were transferred to Birmingham Children’s Hospital to begin treatment.”

Kaleb was told he was out of risk at the age of three following treatment our specialist retinoblastoma centre. “We couldn’t have asked for better care,” added Kirstie. “They really are an amazing team at the Eye Department. They couldn’t have done any more; they were so welcoming and friendly and were always on the other end of the phone should I have any questions or worries.”

When Kirstie found out a few years later that she was pregnant with their daughter, Aria, she knew there was a 50 per cent chance she would also inherit the gene that causes the condition. However, doctors at Birmingham Women’s Hospital could carry out genetic testing during pregnancy, taking a simple blood test from Kirstie.

“I had non-invasive prenatal testing when I was pregnant with Aria. The test meant that if my daughter also had retinoblastoma, we could begin treatment right away,” explained Kirstie. “Luckily, the test came back all clear. It was such huge relief. It meant I didn’t have added worry or stress during my pregnancy.

“The team are amazing. The difference in testing available from when Kaleb was treated to when Aria was born really is extraordinary; their research is outstanding.”

Back in 2020, the team won the Ulverscroft David Owen Prize for this ground-breaking research.

Dr Cole and Dr Gerrish’s Cell-free DNA in retinoblastoma research is leading the way in transforming how we treat children’s eye cancer, providing significant savings for the NHS and less stress for patients and their families.