Retinoblastoma

Retinoblastoma is a rare eye cancer that can occur in babies or children under five years of age. Each year, 40 to 50 children in the UK are diagnosed with retinoblastoma (Source: Patient). Worldwide retinoblastoma occurs in approximately 15,000 to 20,000 births (Source: British Journal of Ophthalmology).

Treatment options include laser therapy, cryotherapy, chemotherapy, radiotherapy and surgery. Retinoblastoma can spread to other parts of the body, but the condition is usually diagnosed early in the UK, and treatment is very effective.

It’s distressing to learn your child has cancer, and it can be stressful to support them through treatment and recovery. Don’t be shy to ask family, friends, and the healthcare team around your child for help and support.

Some children experience partial or severe sight loss and will need help to make the most of their remaining vision. We’re here for families living with sight loss to give practical and emotional support.

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What is retinoblastoma?

Retinoblastoma is cancer that affects the retina, the light-sensitive layer of cells at the back of the eye. When the eye develops in the womb, abnormal retinal cells may develop. When these fast-growing cells continue to grow, they can become a tumour, leading to sight loss if untreated.

Bilateral retinoblastoma affects both eyes and accounts for 40% of cases. It is almost always inherited and is often diagnosed before the age of one. Unilateral retinoblastoma affects one eye and is more common (60%) and may be diagnosed later, though typically still before the age of five.

Retinoblastoma symptoms

If there is a family history of retinoblastoma, your child may be screened for it very early to detect the condition before they show any symptoms or signs.

Children with retinoblastoma may not appear to be poorly. Often, one of the first signs of retinoblastoma is the pupil of the eye appearing white. This is known as leukocoria and can show up in photos taken with a flash. Other signs of retinoblastoma can include:

  • A squint (strabismus) when the eyes don’t look in the same direction.
  • Problems with a child’s vision failing to develop normally.
  • Less commonly, a child’s eye may be red and inflamed, enlarged, or show rapid involuntary movement (nystagmus).

How is retinoblastoma diagnosed?

Children with a family history of retinoblastoma should have screening for the condition. Screening involves regular eye exams under anaesthetic, allowing doctors to get a very detailed look at your child’s eye. Specialist retinoblastoma treatment centres provide this screening.

If your GP or optician suspects your child may have retinoblastoma, they’ll refer them to an ophthalmologist (eye doctor). A detailed eye examination by a specialist is usually sufficient to make a diagnosis of retinoblastoma.

Further tests can confirm how large the tumour is and its exact location, which is helpful for planning treatment. Tests can include:

  • Ultrasound uses sound waves to look at the eye and area around it. A probe is placed gently on your child’s eyelid.
  • Magnetic resonance imaging (MRI) scan uses magnetism to create a detailed picture.
  • Lumbar puncture to take a sample of cerebrospinal fluid to check for cancer cells.
  • Genetic testing, with blood tests, can check for the RB1 gene.

Intraocular retinoblastoma describes cancer in the eye or both eyes which hasn’t spread beyond the eye. It's the most common type of retinoblastoma. Extraocular retinoblastoma describes cancer that has spread to other parts of the eye or other parts of the body.

Retinoblastoma treatment

Treatment options for retinoblastoma differ depending on the stage and grade of the tumour and whether it has spread to other tissue. Treatment is usually led by a specialist eye hospital or children’s cancer centre. Your child will have a general anaesthetic for most types of treatment so that they won’t feel pain during the procedures.

Smaller tumours can be treated with:

  • Laser therapy: either thermotherapy that uses heat from an infra-red laser or photodynamic therapy that combines a laser with a light-sensitive drug to kill cancer cells.
  • Cryotherapy: a treatment to freeze the cancer cells, targeted just at the tumour.
  • Chemotherapy may also be used in combination with these treatments.

Larger tumours may need:

  • Brachytherapy: a type of radiation therapy that uses high-energy rays like protons or gamma rays to destroy cancer cells. Brachytherapy uses a radioactive plaque put on the eye over the tumour over several days.
  • Chemotherapy may be needed and is sometimes given using eye drops. Chemotherapy may shrink the tumour before other treatments.
  • Surgery: if the tumour is large, and as a last resort, the eye may need to be surgically removed This is called enucleation. It is replaced with an artificial eye made to match your child’s remaining eye. If the vision in the other eye is good, it’s possible to adapt to seeing with one eye very well.

There can be side effects from retinoblastoma treatments, including hearing loss from some chemotherapy medicines and damage to healthy cells from radiotherapy. Your child’s oncologist will discuss all the treatment options with you and the possible side effects.

After treatment, children have regular follow-up appointments to check the health of their retina and that cancer has not returned. If a child has heritable retinoblastoma (meaning they could pass it on to their children), they may have genetic counselling when they’re older.

Retinoblastoma prognosis

Retinoblastoma is very serious and can spread to other parts of the body. However, when caught early, treatment is very effective. In the UK children have good access to diagnosis and treatment, with very positive outcomes. Retinoblastoma has the highest survival rate of childhood cancers (Source: International Journal of Ophthalmology). 99-100% of children survive for five years or longer after diagnosis (Source: Cancer Research UK).

Children with retinoblastoma can experience some sight loss. Around one in three children have poor vision in the affected eye, but more than half of children will have good or fairly good useful vision after treatment (Source: Patient). If both their eyes are affected, it’s more likely that a child will have a severe visual impairment.

The heritable form of retinoblastoma can lead to an increased risk of other types of cancer. These include sarcoma of the bone or soft tissues and skin melanoma. These secondary cancers can develop many years after treatment for retinoblastoma has ended, so follow-up healthcare and checks are usually needed for life. If your child experiences bone pain, lumps, or unusual moles, speak to their healthcare team as soon as possible.

Causes of retinoblastoma

A mutation in the RB1 gene causes retinoblastoma. This can be inherited from a parent, or the mutation can happen spontaneously during development in the womb. Around 40% of children have the heritable type of retinoblastoma that tends to affect both eyes (Source: Orphanet Journal of Rare Diseases). Non-heritable retinoblastomas generally affect one eye, as the gene mutation develops later, affecting a single retinal cell.

Retinoblastoma support

Being diagnosed with cancer is one of the most difficult experiences life can throw at us. As a parent, it’s hard to imagine a worse scenario than your child being diagnosed with life-threatening cancer. Supporting your child through treatment, recovery, and the after-effects can be exhausting and place demands on the whole family. Finding the right help and advice can make all the difference. Sources of support include:

  • Your child’s healthcare team will include nurses, doctors, their GP, and specialists such as play therapists and psychologists. They’ll be able to support you as well as your child and give you information about services that can help.
  • The Childhood Eye Cancer Trust connects families living with retinoblastoma to others going through the same experience and provides trained support workers.
  • If your child has lasting sight loss, we can help with a range of services to help them and the whole family. We can help your child develop the skills for an independent and active life and arrange events to connect you with other families living with sight loss.

Frequently asked questions

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You can contact us to find out about services and support tailored to your individual needs.

Reviewed in May 2022

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