Retinoblastoma

Overview

Retinoblastoma is a rare type of eye cancer that starts in the retina — the thin, light-sensitive layer inside the back of the eye that helps you see. It almost always affects babies and young children. When it is found early, treatment is usually very effective and can save the child's sight and life.

No, retinoblastoma is rare. It affects about 1 in every 18,000 to 20,000 children born, but it is the most common eye cancer in children.

Retinoblastoma can affect children of any age, but it is most often found under the age of 5. It affects boys and girls equally. About 4 in 10 cases are passed down in families, but many cases happen by chance.

Symptoms

Common symptoms

• A white glow or white spot in the pupil, which may show up in flash photos
• A squint, where the eyes do not look in the same direction
• A red, swollen, or painful eye with no clear cause
• Poor vision in the affected eye or the child having trouble seeing

Symptoms in children

• A white glow in the pupil in photos is often the first sign parents notice
• The eye may look different, for example the pupil may appear white or the iris may look unusual
• The child may squint or rub their eye more than usual
• The child may seem to have poor vision, like not watching or tracking moving things

Causes

Main causes

• Retinoblastoma starts when the cells in the retina grow out of control. This happens because of a change (mutation) in a gene called RB1, which normally helps control cell growth.
• In around 4 in 10 cases, the child inherits a faulty RB1 gene from a parent. This form can affect both eyes.
• In around 6 in 10 cases, the gene change happens by chance, with no family history involved.

Risk factors

• A family history of retinoblastoma
• Carrying a known change in the RB1 gene
• Being under the age of 5 — this is when nearly all cases are found

When to see a doctor

See a doctor urgently if:

• See a doctor urgently if you notice a white glow in your child's pupil, especially in flash photos.
• See a doctor urgently if your child develops a squint or any other change in eye alignment.
• See a doctor urgently if the eye becomes red, swollen, or painful without an obvious reason.

Book a routine appointment if:

• If you are worried about your child's vision or eye appearance, you can ask your GP or health visitor for an eye check.
• If there is a family history of retinoblastoma, talk to your GP about genetic counselling and regular eye checks.

Diagnosis

A doctor will start by asking about symptoms, family history, and doing a simple eye examination. If retinoblastoma is suspected, the child will be referred urgently to a specialist eye surgeon (ophthalmologist) at a children's cancer centre.

Tests that may be done

• A full eye examination under anaesthetic, so the specialist can see the retina clearly
• Imaging tests such as ultrasound or MRI scans of the eye and surrounding area
• A blood test to look for the RB1 gene change, if the specialist thinks it might be inherited

What to expect at your appointment

The specialist team will explain everything step by step, and you will have a named contact who supports you through the process. If the diagnosis is confirmed, treatment is planned together with you, the doctors, and other specialists.

Treatment

The goals of treatment for retinoblastoma are, first, to save the child's life, and then to protect as much sight as possible. The treatment plan depends on whether one or both eyes are affected, how big the tumour is, and the child's age.

Self-care at home

• Follow the care plan your child's specialist gives you, including hospital appointments and medicines for symptom relief.
• Keep a note of any changes you notice in your child's eye or vision and tell the team at every visit.
• Ask the team about anything you do not understand — no question is too small.

Medical treatments

Treatments for retinoblastoma include chemotherapy (medicines that kill cancer cells), laser therapy, freezing therapy, and sometimes radiation therapy. The specialist team will discuss the options that are most appropriate for your child and explain how each treatment works and what side effects to expect. Treatment is given in a specialised children's cancer centre.

When is surgery considered?

In some cases, especially if the tumour is large and the eye has little or no vision, the surgeon may remove the whole eye (enucleation). This is a difficult decision, but it may be the best way to prevent cancer from spreading. An artificial eye can be fitted, and most children adapt very well to seeing with one eye.

Living with this condition

Children who have finished treatment need regular check-ups to make sure the retinoblastoma has not returned and to keep an eye on their vision. Many children grow up healthy and active. Some will need glasses, contact lenses, or other visual aids to make the most of their sight.

Lifestyle tips

• Protect the healthy eye, for example with protective goggles during sports or activities that could cause injury.
• Keep all scheduled follow-up appointments — even when the child seems perfectly well.
• Talk with your child about their health in a simple, open way, and encourage questions as they grow older.

Diet and exercise

A balanced, varied diet is good for any child's health and recovery, but there is no specific food or diet that treats retinoblastoma. Children can be as active as they enjoy, as long as the eye specialist has no restrictions.

Mental health and emotional wellbeing

A child with cancer is a very stressful experience for the whole family. It is normal to feel anxious, low, or overwhelmed. Speak to your care team about counselling or support groups for parents and children. If you or your child have thoughts of self-harm or need urgent emotional help, contact a crisis service or go to your local emergency department.

Prevention

Retinoblastoma cannot usually be prevented. In most cases, the gene change happens by chance or is inherited. If you have a family history of retinoblastoma, genetic counselling can help you understand the risks and options for future children.

Screening programmes

Children with a known family history of retinoblastoma may be offered eye examinations from birth, so tumours are found as early as possible. If you or a close relative has the condition, ask your GP or a genetic counsellor about screening for your child.

Complications

If left untreated

• The cancer can grow and spread to other parts of the body, including the brain, which can become life-threatening.
• It can cause permanent loss of vision in the affected eye or eye(s).
• Children who carry the inherited RB1 gene change have a higher risk of other types of cancer later in life, so they need long-term monitoring.

Long-term outlook

The outlook for retinoblastoma is very good when treatment is given early. In the UK, more than 95% of children are cured and go on to lead long, healthy lives. The specialist team will guide you through every step, and many children keep useful vision, especially when only one eye is affected.

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