Understanding Retinoblastoma

Retinoblastoma (Rb) is a form of cancer that develops from immature cells of the retina and it is almost exclusively found in young children, mainly under the age of six.

Around 50 cases are diagnosed a year in the UK. It represents 3% of all childhood cancers and 10% of cancers in babies under the age of one in the UK.  Over 90 per cent of children diagnosed with Rb will survive this cancer, though they may lose their vision in the affected eye(s) and may even need to have the eye removed.

It is a very aggressive cancer, so early diagnosis is vital to save a child’s sight, eyes and life.

Symptoms

The main presenting symptoms of children diagnosed with Rb in the UK between 2012 and 2018(1), were:

• Leukocoria – 70%
• Strabismus – 33%
• Change in colour of iris – 13%
• Redness or swelling without infection – 6%
• Roaming eyes / child not focusing – 6%
• Loss of vision – 6%
• Absence of red eye – 1%

Cause

Mutation of genes found in chromosomes affect the way in which cells grow and develop within the body. Mutations in RB1 or MYCN can give rise to retinoblastoma. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. MYCN amplification accounts for 1.4% of retinoblastoma cases and can be responsible for some cases of nonhereditary onset.

Identification and diagnosis

The most common symptoms are a white glow in a child’s eye or pupil in dim lighting or when a photo is taken using a flash and/or a squint.    

If you notice any changes in your child’s eye or vision you should contact your optician to take a thorough eye examination and for further advice.