Introduction 

Retinoblastoma is a rare type of eye cancer that can affect young children (usually under five years of age).

If it's picked up early, retinoblastoma can often be successfully treated (children treated for retinoblastoma diagnosed at an early stage have a survival rate of more than 95%).

Retinoblastoma can either affect one or both eyes. If it affects both eyes, it's usually diagnosed before a child is one year old. If it affects one eye, it tends to be diagnosed later (between the ages of two and three).

This page covers:

Signs and symptoms of retinoblastoma

Signs and symptoms of retinoblastoma include:

  • an unusual white reflection in the pupil – this may be apparent in photos where only the healthy eye appears red from the flash, or you may notice it in a dark or artificially lit room
  • squint
  • a change in the colour of the iris – in one eye or sometimes only in one area of the eye 
  • a red or inflamed eye – though your child won't usually complain of any pain
  • poor vision – your child may not focus on faces or objects, or they may not be able to control their eye movements (this is more common when both eyes are affected); they may say that they can't see as well as they used to

These symptoms may be caused by something other than retinoblastoma. However, you should get them checked by your GP as soon as possible.

It's unusual for retinoblastoma to progress unnoticed beyond the age of five. Signs in older children include the eye appearing red, sore or swollen, and some loss of vision in the affected eye.

What causes retinoblastoma?

Retinoblastoma is cancer of the retina. The retina is the light-sensitive lining at the back of the eye.

During the early stages of a baby's development, retinal eye cells grow very quickly and then stop growing. However, in rare cases, one or more cells continue to grow and form a cancer called retinoblastoma.

In about 4 out of 10 (40%) of cases, retinoblastoma is caused by a faulty gene, which often affects both eyes (bilateral). The faulty gene may be inherited from a parent, or a change to the gene (mutation) may occur at an early stage of the child's development in the womb.

It's not known what causes the remaining 60% of retinoblastoma cases. In these cases, there's no faulty gene and only one eye is affected (unilateral).

Around 50 to 60 children are diagnosed with retinoblastoma in the UK each year.

Diagnosing retinoblastoma

Your GP will carry out a 'red reflex test' in a darkened room using an ophthalmoscope (a magnifying instrument with a light at one end).

When a light is shone into your child's eyes, your GP will see a red reflection if the retina is normal. If the reflection is white, it may be a sign of an eye condition such as cataracts, retinal detachment or retinoblastoma. In this case, your child will be urgently referred (within two weeks) to an eye specialist for further investigation.

The eye specialist (ophthalmologist) will examine your child's eyes, and they may carry out another red reflex test. Eye drops will be used to increase the size of your child's pupils, allowing a clear view of the retina at the back of the eye.

An ultrasound scan is also sometimes used to help diagnose retinoblastoma. This is a painless procedure where gel is rubbed on the outside of the eyelid and a small ultrasound probe is placed on the eyelid, which scans the eye.

After these investigations, if the eye specialist thinks your child has retinoblastoma they'll refer them to one of two specialist retinoblastoma treatment centres, either at The Royal London Hospital (RLH) or the Birmingham Children's Hospital (BCH).

Your child's appointment should be within a week of being seen at your local eye clinic. At the specialist centre, your child will need to have a general anaesthetic so their eyes can be thoroughly examined and a diagnosis of retinoblastoma can be confirmed or ruled out.

Treating retinoblastoma

Your child will be treated by a specialist retinoblastoma team at either the Royal London Hospital or Birmingham Children's Hospital.

However, if your child needs chemotherapy, it will usually be carried out at a local children's cancer centre and overseen by the retinoblastoma team at one of the two specialist hospitals.

The recommended treatment for retinoblastoma will depend on the stage of the tumour which can either be:

  • intraocular – where the cancer is completely within the eye
  • extraocular – where the cancer spreads beyond the eye to the surrounding tissue, or to another part of the body (this is rarely seen in the UK) 

Most cases of retinoblastoma (9 out 10) are detected early and successfully treated before the cancer spreads outside the eyeball.

If the cancer has spread beyond the eye it will be more difficult to treat. However, this is rare as the condition is usually identified well before it reaches this stage.

Depending on the size and position of the tumour, your child's specialist will be able to accurately stage the cancer into one of a number of categories (A to E).

Visit the American Cancer Society to read more about how retinoblastoma is staged.

Treating small tumours

There are two possible treatment options for treating small tumours contained within the eye. These are:

  • laser treatment to the eye (photocoagulation or thermotherapy)
  • freezing the tumour (cryotherapy)

These treatments are carried out under general anaesthetic, so your child will be unconscious and won't feel any pain or discomfort during the procedure. In some cases, chemotherapy (see below) may be needed before or after these treatments.

Treating larger tumours

Larger tumours will be treated with one or a combination of the following treatments:

  • brachytherapy – if the tumour isn't too large, small radioactive plates called plaques are stitched over the tumour and left in place for a few days to destroy the tumour, before being removed; radiotherapy to the whole eye may be recommended for larger tumours that haven't responded to other treatment methods
  • chemotherapy – may be used to shrink the tumour before one of the above treatments are used, or it may be recommended if there's a chance of the cancer spreading; in some cases, chemotherapy medication can be delivered directly to the eye
  • surgery to remove the eye – is often necessary for very large tumours where there's no sight from the eye; if your child needs to have their eye removed, they'll have an artificial eye fitted in its place

You can find out more about artificial eyes from the National Artificial Eye Service.

Side effects of treatment

Your child's treatment team will discuss any possible side effects of treatment with you. Different treatments have different side effects.

Sight loss is one of the biggest worries for parents. Your child's treatment team will do everything they can to avoid your child losing their sight. If your child needs to have one of their eyes removed, the sight in their other eye won't be affected as long as there are no tumours in the important areas for seeing in that eye.

Children who lose sight in one eye are usually able to adapt very quickly to using their other eye, without it affecting their home and school life. If both eyes are affected by retinoblastoma, your child will probably have some degree of sight loss, and they may need support either within a mainstream or specialist school.

The UK-based retinoblastoma charity, the Childhood Eye Cancer Trust (CHECT), has more information about the side effects of treatment for retinoblastoma.

Follow-up

Retinoblastoma requires a long period of follow-up tests, which will initially be carried out at one of the specialist retinoblastoma centres. After a period of treatment and observation, the tests will usually take place at your local eye department.

Screening for retinoblastoma

If you're expecting a baby and you had retinoblastoma yourself as a child, or you have a family history of retinoblastoma, it's important to tell your GP or midwife.

This is because in some cases retinoblastoma is an inherited condition and babies considered at increased risk of developing it may be offered screening after the birth.

Your GP will be able to refer you to a specialist centre so the appropriate tests can be arranged when your baby is born. Your children's risk will depend on the type of retinoblastoma you or your relative had.

The aim of screening is to identify tumours as early as possible so that treatment can be started straight away.

Children under five years of age are usually screened by having their eyes examined while under general anaesthetic. This will be carried out at one of the UK's two specialist retinoblastoma centres (The Royal London Hospital or Birmingham Children's Hospital).

Your child will need to be screened frequently up until they're five years old.

Does my child need screening?

The Childhood Eye Cancer Trust (CHECT) says that your child may need to be screened if:

  • you or your partner has had retinoblastoma and you're expecting a baby or you've recently had a baby
  • you or your partner has had retinoblastoma and you have a child under five years of age who hasn't been checked
  • you have a child who's been diagnosed with retinoblastoma and you're expecting a baby, or you have other children under five who haven't been checked
  • your parent (or brother or sister) had retinoblastoma and you have a child under five who hasn't been checked

Getting support

The specialist teams at the retinoblastoma centres at The Royal London Hospital and Birmingham Children's Hospital have a wealth of knowledge about retinoblastoma. You can discuss any worries or concerns you have with them.

They'll also be able to put you in touch with the parents of children who've recently been diagnosed with retinoblastoma and treated for it.

The Childhood Eye Cancer Trust (CHECT) can give you further information about retinoblastoma. It also provides help and support to parents and carers of children affected by retinoblastoma, as well as adults who were affected during childhood. You can contact them on 020 7377 5578 (Monday to Friday, 9am to 5pm).

You can also call the Cancer Research UK helpline to speak to a cancer nurse who will be able to provide you with information and support. The number is 0808 800 4040 (Monday to Friday, 9am to 5pm).

Macmillan operate a similar helpline – 0808 808 00 00 (Monday to Friday, 9am to 8pm).




Page last reviewed: 17/02/2016

Next review due: 17/02/2018