Retinoblastoma

A cancer of the eye in young children. A white reflection in a photograph, instead of red-eye, is how most are found.

What it is

A cancer of the retina, occurring almost entirely in children under five, affecting around 40 to 50 children a year in the UK.

**It is usually found by a parent noticing a white reflection in the pupil**, most often in a flash photograph where one eye shows red-eye and the other shows white. That single observation is how the majority of cases come to attention, and it is why the message is worth spreading widely.

The other common presentation is a new squint. Every child with a squint needs their eyes examined properly, and this is one of the reasons why. See squint and lazy eye.

Survival in the UK is very high, over 98 per cent, when it is treated. The urgency is about saving the eye and the sight, and increasingly about avoiding the more damaging treatments, which is only possible when it is caught early.

Around 40 per cent of cases are hereditary, caused by a change in the RB1 gene. Those children usually have both eyes affected, present younger, and have a lifetime increased risk of other cancers. Genetic testing determines whether siblings and future children need screening, and it changes follow-up for life.

Treatment is at one of two specialist centres in the UK, in London and Birmingham.

Signs you might notice

A white reflection in the pupil, especially in photographs taken with a flash, or in dim light. Sometimes called a white pupil or leukocoria.

A new squint, where one eye turns in or out.

A red, sore or swollen eye without infection.

A change in the colour of the iris.

Deteriorating vision, or a child not fixing and following.

Rarely, an eye that appears to bulge.

**See a GP or optometrist urgently for any white pupil reflection or new squint in a young child**, and ask for same-week referral to the hospital eye service. Say retinoblastoma.

Do not accept a wait-and-see. A white pupil reflection is not a photographic artefact until an ophthalmologist has looked.

Also check: family history of eye cancer or of an eye removed in childhood.

How it can affect day-to-day life

Photographs are the diagnostic tool most families have. Taking flash photographs of a young child from the front, with red-eye reduction off, and checking that both eyes glow red, is a reasonable thing for any parent to do occasionally. Any consistently white or yellowish reflection needs checking.

Treatment can mean chemotherapy, laser, freezing, plaque radiotherapy, or removal of the eye. Removal is devastating to hear and children adapt remarkably well, with an artificial eye that is cosmetically excellent.

For hereditary cases, siblings and future children need examinations under anaesthetic from birth until around five, which is a long series of appointments and anaesthetics.

Survivors of hereditary retinoblastoma have a raised lifetime risk of other cancers, particularly after radiotherapy, and need lifelong awareness and avoidance of unnecessary radiation.

Vision in the remaining eye becomes precious, and protective eyewear for sport and DIY matters for life.

The Childhood Eye Cancer Trust supports families through all of this and is the specialist charity.

Supporting someone well

Learn the white pupil sign and share it. It is how most cases are found.

Take occasional flash photographs from the front and check both eyes glow red.

Get any white reflection or new squint in a young child seen urgently, and say retinoblastoma.

Ask for referral to one of the specialist retinoblastoma centres.

Ask about genetic testing; it determines screening for siblings and future children.

Protect the remaining eye: safety glasses for sport and DIY, and regular eye checks.

Keep lifelong follow-up for hereditary cases, and mention the history at any future health problem.

Ask for family and sibling support; the treatment period is long and unsettling.

Where to get help

A GP practice or optometrist urgently, for same-week referral to the hospital eye service.

One of the two specialist retinoblastoma centres, in London and Birmingham.

The Childhood Eye Cancer Trust, the UK charity for retinoblastoma families.

RNIB helpline: 0303 123 9999 for sight loss support.