Diagnosing retinoblastoma, the leading cause of eye cancer in children

10 August 21

written by:

Anna Riley

(more articles)

A team of researchers at Birmingham Children's Hospital and the Royal London Hospital, jointly funded by Fight for Sight and the Childhood Eye Cancer Trust, is investigating a safer and less invasive test to diagnose and treat retinoblastoma – the most common form of eye cancer in children.

The research, led by Dr Amy Gerrish, hopes to gain a greater understanding of the risk the condition causes patients and which treatments would be most suitable and successful for individuals.

“We are incredibly excited that this project could bring a new technique to diagnose our young patients affected by retinoblastoma, which would provide patients with much more information about their condition and enable us to more accurately determine the best treatments.”

Dr Amy Gerrish

What does the study hope to achieve? 

Retinoblastoma affects 1 in 20,000 children, typically before the age of 3, with most cases caused by mutations in the RB1 gene. The condition can be inherited or occur spontaneously. In the majority of cases, retinoblastoma is treated successfully. Previously, this was mainly by removing the affected eye. However, with new chemotherapy treatments, more and more eyes are now saved.

While this is a great advance for patients, it means a sample of the tumour DNA is often not available which is needed to make a genetic diagnosis. This diagnosis is necessary in order to predict the risk of other cancers developing in the future as well as the risk of retinoblastoma in other family members. Research is therefore urgently needed to develop new ways to diagnose retinoblastoma and choose the best treatment that could ultimately help save children’s sight.

The study will investigate if fluid inside the eye could be used instead of a tumour biopsy to identify the type of gene variant causing retinoblastoma. The hope is this procedure could identify the type of retinoblastoma a patient has developed and could determine the risk of second cancers in the patient - as well as the risk to other family members. 

The team - one of only two research teams in the world who have published articles investigating the analysis of the fluid as a liquid biopsy for retinoblastoma - also hope that they can help determine which type of available treatment is best for patients with specific variants. This aims to increase the success of treatment to ultimately improve their quality of life.


“We’re delighted to fund this vital research that has the potential to advance diagnosis techniques for patients with retinoblastoma. It’s only thanks to the generosity of our supporters that we can support research that has the potential to save sight, and in this case, the potential to help save lives.”

Ikram Dahman, Fight for Sight CEO.

Fight for Sight fights sight-loss by funding the best research into new treatments and cures for eye conditions, like retinoblastoma. Donate today to help support our sight-saving research.

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About retinoblastoma

Retinoblastoma is a rare type of eye cancer which affects the retina, the light sensitive layer of the eye. This type of cancer mainly affects young children under the age of five.
One in 20,000 children in the UK are affected by this condition with approximately 40-50 new cases being diagnosed each year. Whilst in the majority of cases the cancer is treated successfully, in 40% of patients the cancer can lead to the loss of one eye.

Retinoblastoma can occur as an inherited and non-inherited condition, which can affect one or both eyes.

Find out more