Retinoblastoma

Kalli had retinoblastoma as a child and now her ten month old daughter is being treated for the condition. Read Kalli's full story. She said:

“Autumn is lucky because her cancer was spotted early. It’s so important for parents to proactively look after their child’s eye health. We’re taking part in Fight for Sight’s research because it’s helping to pave the way for new treatments.”

Find out how the retinoblastoma research we fund will have a huge impact for people like Kalli and Autumn who are living with the condition.

More about our research

What is retinoblastoma?

Retinoblastoma is a rare type of eye cancer which affects the retina, the light sensitive layer of the eye. This type of cancer mainly affects young children under the age of five.

One in 2000 children in the UK are affected by this condition with approximately 40-50 new cases being diagnosed each year. In 40% of cases the cancer can lead to the loss of one eye. However, in over 95% of cases the cancer is treated successfully.

Retinoblastoma can occur as an inherited and non-inherited condition, which can affect one or both eyes.

What causes retinoblastoma?

RB1 is the gene that is primarily associated with retinoblastoma. This gene regulates cell growth and stops uncontrollable cell division. If there is a change or mutation in this gene it can result in a change in a protein, which changes the way the protein functions and results in a tumour.

In the majority of cases of hereditary retinoblastoma there is a change in 1 of the 2 copies of the RB1 gene. This change is inherited from one parent. If there is another mutation in the second copy of the gene this can lead to the development of retinoblastoma.

Non-hereditary retinoblastoma usually affects one eye. Children with this type of retinoblastoma are born with two normal copies of the RB1 gene. However, both copies of the RB1 gene then acquire changes or mutations that result in a defective protein being produced, which causes retinoblastoma. These changes in the gene only affect the eye and cannot be passed down to the next generation.

What are the signs and symptoms of retinoblastoma?

Symptoms may be related to other less serious conditions so it is important to have your child’s eyes tested if you have any concerns.

The symptoms to be aware of includes:

  • An unusual white reflection in the pupil – this may occur in photos where only the healthy eyes appears red from the flash.
  • A white colour in the centre of the eye (pupil) when light shone in the eye, such as when taking a flash photograph
  • Squint – eyes that look in different directions
  • Change in the colour of the iris
  • Poor vision – Your child may express that they cannot focus on faces or objects. They may not be able to see as well as they used to
  • Red or inflamed eye

It’s important to detect these symptoms early to help ensure a successful outcome for the child.

How is retinoblastoma diagnosed?

A red reflex test will be carried out by your GP. This test will take place in a darkened room using a magnifying instrument with a light at one end. The light will be shone into your child’s eyes in order to see if there is a red reflection, which is normal. If a white reflection is seen, your GP will refer your child to an ophthalmologist who will perform another test to examine further.

Once referred, the ophthalmologist may repeat the red reflex test using eye drops to allow a clearer view of the retina.

Another method of diagnosis is the use of an ultrasound scan. Prior to the scan gel is rubbed on the outside of the eyelid and a small ultrasound probe, which scans the eye, is placed on the outside of the eyelid.

If retinoblastoma is suspected, the ophthalmologist will refer your child to one of the two specialist retinoblastoma treatment centres (The Royal London Hospital or the Birmingham Children's Hospital).

At the specialist treatment centres, your child will have a general anaesthetic to allow a thorough examination which will confirm the presence or absence of the cancer.

How is retinoblastoma treated?

The method of treatment will be determined by a medical professional. It will be dependent on the stage at which the cancer has been detected, the severity and other influential factors.

Treatment is successful in treating retinoblastoma in more than 95% of cases. However, in 40% of cases the cancer can lead to loss of one eye, which is why Fight for Sight is investing in research to help develop new treatments that will help save children’s sight.

Treatments include:

Cryotherapy

A technique used to freeze small tumours. This treatment may be needed more than once. It is performed under general anaesthetic so your child will not feel any pain during the procedure.

Chemotherapy

Chemotherapy may be required for larger sized tumours as it may be needed to shrink down the size of the initial tumour. However it may also be used for small tumours. It can be given to the whole body (systemic), to the eye via a blood vessel (intra-arterial) or injected into the eye (intravitreal).

Systemic chemotherapy may also be used after the cancerous eye has been removed, in case there are still signs of the cancer in the surrounding areas.

Enucleation

If the tumour is extremely large and there is no sight from the eye, it may be recommended for your child to have surgery to remove the eye. If enucleation occurs, an artificial eye will be given and fitted. 

Photocoagulation

Photocoagulation involves the use of a laser beam to destroy the tumour itself. This treatment is used for small tumours which are located towards the back of the eye. This treatment can be used in combination with chemotherapy

Radiotherapy

Radiotherapy uses high energy x- rays or particles are used to kill the cancer cells. There are two main types of radiotherapy which includes external beam radiation therapy and brachytherapy.

External beam radiation therapy (EBRT) is the use of a machine to directly aim beams of radiation at the cancer. Whilst brachytherapy (also known as plaque radiotherapy) is the use of small pieces of radioactive metals which are placed near the site of the cancer which are able to kill the cancer cells.

What research is underway?

Fight for Sight is currently investing in five retinoblastoma research projects. These projects range from using a model made from stem cells to predict where a young patient’s sight could be saved to examining the therapeutic potential of a new tumour suppressor protein in retinoblastoma.

What can I do?

Have your eyes tested every two years even if you think your vision is fine. An eye test can spot glaucoma and, if caught early, treatment may prevent further deterioration. If you have been advised that you are at risk of glaucoma (e.g. a close relative has the condition) you are entitled to more frequent free eye tests.

Find your nearest optician

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Last updated November 2018

Approved by Mr Ashwin Reddy, Lead Clinician for Ophthalmology and Retinoblastoma Services, Royal London Hospital.

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