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Macmillan and Cancerbackup merged in 2008. Together we provide free, high quality information for people affected by cancer through our publications, website and phone service. Find out more|.
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This information is about retinoblastoma in children. You may find it helpful to read it alongside the Macmillan/CCLG booklet A parent's guide to children's cancer|, which contains more information about children's cancer, diagnosis, treatment and support services.
About 40 cases of retinoblastoma are diagnosed in the UK each year. Most of these occur in children under the age of five, although it can affect children of any age.
Retinoblastoma is a tumour that occurs in the retina. This is the light-sensitive lining of the eye.
Structure of the eye
View a large copy of the structure of the eye image|
Retinoblastoma can occur in two forms:
The heritable form of retinoblastoma, which accounts for about two in every five cases, is caused by a genetic abnormality. This means that an abnormal gene allows the tumour to develop. This abnormal gene may either be inherited from a parent or occur for the first time at an early stage of development in the womb. People with this gene, known as the Rb gene, also have an increased risk of developing other types of tumours later in life.
Genetic counselling and support is available for families in which a member has retinoblastoma. Not all children of an affected parent will inherit this gene. However, all children born into families with a history of retinoblastoma will be offered blood testing and will usually be checked (screened) for signs of retinoblastoma so that treatment can be started early if a tumour does develop.
Screening usually starts shortly after birth and is repeated every few months for five years. An eye specialist examines the eye while shining a light into it with an ophthalmoscope.
The cause, or causes, of retinoblastoma remain unknown. However, the genetic abnormality in the heritable form of the disease is now well understood. The cause of non-heritable retinoblastoma is unknown.
Some children with retinoblastoma may have no symptoms, but it will be picked up by screening in children of families with a history of the condition.
If there's no family history of retinoblastoma, the first sign of the condition is often a white pupil that does not reflect light (leucocoria). This may be detected when a picture of your child is taken using flash photography. The affected eye may look white in the photograph. Some children may have a squint, or if the tumour is large, they may have a painful red eye.
Tests may involve an examination under anaesthetic (EUA) in which an eye specialist (ophthalmologist) will examine your child’s eye while they're asleep. Unlike nearly all other types of cancer, retinoblastomas can be diagnosed just by their appearance, and taking a tissue sample (biopsy) is not usually necessary. Several more EUAs will be carried out to check on the progress of treatment.
Once a retinoblastoma is diagnosed, other tests may be done to check the exact position and size of the tumour, and whether it has begun to spread into surrounding structures. This is known as staging.
An ultrasound scan may be used. This is a painless scan that uses sound waves to examine the eye and the surrounding area.
An MRI (magnetic resonance imaging) scan is a series of detailed images that show the structures of the eye and brain.
A lumbar puncture| may be used to examine some of the fluid from around the brain and spinal cord (cerebrospinal fluid) to see if any tumour cells are present.
A bone marrow sample may be taken to check if there has been any spread of the cancer to the bone marrow|. Some children may also need a bone scan so that doctors can look more closely for signs of any spread to the bones.
A blood test may be taken for genetic testing for the Rb gene. Results of this test can take some months.
Any tests and investigations that your child needs will be explained to you. Our booklet A parent's guide to children's cancer gives more details of what the tests and scans involve.
The stage of a cancer is a term used to describe its size and whether it has spread beyond its original site in the body. Knowing the particular type and the stage of the cancer helps the doctors to decide on the most appropriate treatment.
The following staging system is commonly used for retinoblastoma:
There is cancer in one, or both, eyes but it has not begun to spread to other parts of the eye or into the tissues surrounding the eye. This stage is sometimes sub-divided into five grades (A–E) depending on the size and position of the tumour and the extent of any damage to the eye. It gives the doctors more information to help them plan appropriate treatment.
The cancer has spread beyond the eye and into the tissue surrounding it or to other parts of the body.
If the cancer comes back after initial treatment, it's known as recurrent cancer. It may come back in the eye, the tissue surrounding the eye, or in other parts of the body.
This depends on the number, position and size of the tumours in the eye. The aim of treatment is firstly to get rid of the cancer and secondly to try to keep the sight in the eye. Depending on the treatment, some children may lose some of their sight.
For smaller tumours, treatment is given to the eye itself (local therapy) by one of the following methods:
This is used to freeze the tumours. More than one session may be necessary, in which case they are usually done at monthly intervals.
A laser is used to heat the tumour. Two or three sessions may be needed at monthly intervals.
For slightly larger tumours, and tumours that have not been successfully treated using other methods, a small radioactive disc can be stitched over the tumour on the outside of the eye. The disc needs to stay in place for up to four days. The radiation destroys the cancer cells.
This process uses heat to destroy the cancer cells and may be combined with chemotherapy or radiotherapy, as heat can improve the effectiveness of these treatments. The heat is produced by a laser, which is directed at the tumour.
These can be treated in a number of ways, including:
Chemotherapy| is the use of anti-cancer (cytotoxic) drugs to destroy cancer cells. It may be given before the local treatments mentioned above to help shrink the tumour. This can make the treatment more successful. Chemotherapy can also be used if the cancer has spread to other parts of the body, or if it is thought that there is a significant risk that it will do so. A new approach in some situations is to give chemotherapy directly into the artery (the blood vessel) that supplies the affected eye. This is called intra-arterial chemotherapy (IAC). It's not used commonly and tends to be used for tumours that haven't responded well to standard treatment or have come back (relapsed).
If the tumour is very large and the vision in the eye is lost, the eye is likely to be removed|. This is called enucleation. An artificial eye (prosthesis) is then fitted.
External beam radiotherapy| can be given to the whole eye. Radiotherapy treats cancer by using high-energy rays from a machine to destroy the cancer cells while doing as little harm as possible to normal cells, although there will be some effect on the surrounding tissue. Radiotherapy for retinoblastoma is usually used in situations when other treatments have not been successful.
Treatment for retinoblastoma often causes side effects, some of which can develop many years later|. Your child’s doctor will discuss these with you before treatment starts. Any possible side effects will depend on the particular treatment being used.
Many children have their treatment as part of a clinical research trial|. Trials aim to improve our understanding of the best way to treat an illness, usually by comparing the standard treatment with a new or modified version.
Specialist doctors carry out trials for children's cancer. If appropriate, your child's medical team will talk to you about taking part in a clinical trial, and they will answer any questions you have. Written information is provided to help explain things.
Taking part in a research trial is completely voluntary, and you'll be given plenty of time to decide if it's right for your child.
At least 9 out of every 10 children with retinoblastoma are cured. Following treatment|, the eye specialist will frequently examine your child’s eye under anaesthetic to check that the cancer has not come back. Follow-up is usually in a clinic for childhood cancers, called a paediatric oncology clinic.
If the retinoblastoma is the heritable form, your child will be given genetic counselling when they are old enough to understand it.
If you have specific concerns about your child’s condition and treatment, it is best to discuss them with your child’s doctor, who knows the situation in detail.
As a parent, the fact that your child has cancer is one of the worst situations you can be faced with. You may have many different emotions such as fear, guilt, sadness, anger and uncertainty. These are all normal reactions| and are part of the process that many parents go through at such a difficult time.
It's not possible to address here all of the feelings you may have. However, the booklet A parent’s guide to children’s cancer talks about the emotional impact of caring for a child with cancer and suggests sources of help and support.
Your child may have a variety of powerful emotions| throughout their experience of cancer. The parent's guide discusses this further and talks about how you can support your child|.
Our booklet Peppermint Ward| is a storybook for younger children with cancer. It looks at the issues that they and their family may face, and helps them to explore their feelings.
This section has been compiled using information from a number of reliable sources, including:
For answers, support or just a chat, call the Macmillan Support Line free (Monday to Friday, 9am-8pm)
If you have any questions about cancer, need support or just want someone to talk to, ask Macmillan.