Retinoblastoma Dr Trisha Macnair Retinoblastoma is a malignant tumour that develops at the back of the eye. It originates in the cells of the retina, the light-sensitive part of the eye.

In this article

What are the symptoms? Who's affected?

What's the treatment? Advice and support

The most common signs of retinoblastoma are an abnormal pupil that tends to reflect light rather like a cat's eye, and a squint. The child's vision may also start to deteriorate and the eye may become red, inflamed and sometimes painful.

In two-thirds of cases the cancer is unilateral (affecting one eye). In the rest it's bilateral.

In 95 per cent of children, the tumour develops before the age of five. Occasionally, babies are born with a retinoblastoma. There's an increased risk of developing other tumours later in life.

Every year in the UK, 40 to 50 children develop retinoblastoma. Around 40 per cent of cases are caused by an inherited genetic problem - a faulty gene on chromosome 13.

As an autosomal recessive condition, both copies of the gene must be damaged for retinoblastoma to develop. There are several types of retinoblastoma depending on how both genes become damaged. In 60 per cent of cases, however, the cause isn't genetic.

Treatment for retinoblastoma has one of the highest success rates of all childhood cancers - nine out of ten children can be cured. Cryotherapy (a freezing treatment), radiotherapy, chemotherapy and surgery are used.

Antenatal and postnatal genetic screening can be offered, but testing for the retinoblastoma gene isn't easy because it's large and many different abnormalities may occur.

The test is only offered to those with certain types of retinoblastoma and where babies are known to be at high risk.

Childhood Eye Cancer Trust
Tel: 020 7377 5578
Email: info@chect.org.uk
Website: www.chect.org.uk

This article was last medically reviewed by Dr Rob Hicks in July 2006.