Retinoblastoma is a form of eye cancer that occurs in the retina of one or both of the eyes.

The retina

The retina is the light-sensitive lining on the back of the eye. The lens at the front of the eyeball focuses the light coming into the eyes onto the retina. The retina then sends a message along the optic nerve allowing you to see.

Who does it affect?

Retinoblastoma is usually diagnosed in children under five years old, although it can affect people of any age. It is estimated that about 40% of cases are caused by an abnormal gene passed down from parent to child. Children born into families with a history of this cancer will usually have regular checks for signs of retinoblastoma. This screening usually starts soon after birth and continues every few months for five years.

What are the symptoms?
How is it diagnosed?
How is it treated?
What are the side-effects of treatment?
After treatment

What are the symptoms?

If your child is being screened for retinoblastoma, a developing tumour may be picked up before you notice any other symptoms. If this screening is not taking place, the first symptoms you may notice in your child include an unusual looking pupil that does not reflect the light, a white reflection in the pupil in flash photographs, a squint, or a red, sore eyeball.

How is it diagnosed?

The eye will be examined by an eye specialist while your child is under general anaesthetic. Retinoblastoma can usually be diagnosed just by its appearance, so it’s not normally necessary to take a tissue sample. Other tests, such as an ultrasound and lumbar puncture may also be used to see if the tumour has spread into any surrounding tissue.

If your child has been diagnosed with intraocular retinoblastoma, this means the cancer has not begun to spread to other parts of the eye or the surrounding tissue. Extraocular retinoblastoma means that the cancer has spread beyond the eye into the surrounding tissue or to other parts of the body.

How is it treated?

The treatment your child receives will depend on the stage of their cancer. Your child may be referred to a specialist retinoblastoma centre who will oversee any local treatment or surgery. If the tumour is small and has not spread, then a local therapy will be used. This is a treatment that focuses on eye itself. The tumour may be frozen using a process called cryotherapy or removed using a laser (this is known as laser therapy). Larger tumours are usually treated with chemotherapy or surgery.

Chemotherapy involves using anti-cancer drugs to target the cancer cells in the body. It can be used to shrink the tumour before local therapy takes place, or if there is a risk of the cancer spreading. Chemotherapy can usually be given at your local centre.

Sometimes, if a tumour is large, the eye itself may need to be removed. An artificial eye will be provided, and these often look incredibly realistic, but sight will be lost in that eye.

If other treatments have not been effective, your specialist may suggest using radiotherapy to target the tumour with high-energy rays. Alternatively, your child’s specialist may recommend that he or she travels abroad to have a specialised form of radiotherapy called proton beam therapy.

What are the side-effects of treatment?

The side-effects your child will experience depend on the treatment used. If your child is undergoing chemotherapy, for example, he or she may experience side-effects such as tiredness, sickness, diarrhoea and temporary hair loss. Your child may also be at greater risk of infections.

Radiotherapy can also make your child feel tired and sick. He or she might experience skin irritation similar to sun burn and hair loss in the area that is being treated. Talk to your specialist or nurses about how you can manage these side-effects, or see the side-effects section of our website for more information.

After treatment

Follow up

After your child's treatment is complete they will still need to be seen regularly at an outpatient clinic. At this clinic, your child’s specialist will be looking for any signs that the cancer has returned (this is known as a relapse). They will also check that your child’s major organs, such as the heart and lungs, are still functioning correctly and haven’t been affected by the cancer treatment.

Long-term follow up

Once your child’s risk of relapse has reduced, the focus of on-going follow up changes to looking out for potential long term side effects of treatment. The risk of long term side effects depends on the type of cancer your child had and the treatment received. A personalised surveillance plan is usually created that outlines the specific long term follow up and on-going investigations that your child will require.

Many people are at low risk of future health problems but some will have significant on-going health needs. Talk to your child’s specialist about the potential long-term side-effects of their treatment.

Other conditions

The underlying genetic abnormality that caused the retinoblastoma may also increase the risk of your child developing other conditions. It’s important to seek prompt medical advice if you have any concerns.

January 2015, next planned review 2017.