Retinoblastoma symptoms: what is rare eye cancer in unborn babies and new NHS genetic test being rolled out

The NHS is rolling out a genetic test to spot a rare form of eye cancer in babies in the womb for families who are at risk.

The test picks up babies with retinoblastoma and is likely to identify around 50 cases each year in England.

Around 36 children are diagnosed with retinoblastoma in the UK each year.

NHS chief executive Amanda Pritchard said that the “pioneering” test is “fantastic news for babies and their parents” and has the “potential to save hundreds of lives over the coming years.”

What is Retinoblastoma?

Retinoblastoma is a rare type of eye cancer that can affect young children, usually under the age of five.

If it is picked up early, the condition can often be successfully treated and more than nine out of 10 children with it are cured.

However, if the cancer goes undetected, this can lead to the loss of one or both eyes, and even death.

What are the symptoms of Retinoblastoma?

One of the signs of retinoblastoma is an unusual, white reflection in the pupil of the eye – this can look like a cat’s eye that is reflecting light and may be visible in photographs.

Here is a list of the full signs and symptoms of retinoblastoma:

• an unusual white reflection in the pupil – it often looks like a cat’s eye that’s reflecting light and 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
• a 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 – although your child will not 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 they cannot see as well as they used to

These symptoms may be caused by something other than retinoblastoma. But 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.

What causes it?

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.

But in rare cases, one or more cells continue to grow and form a cancer called retinoblastoma.

In about four out of 10 cases, retinoblastoma is caused by a faulty gene, which often affects both eyes.

The faulty gene may be inherited from a parent, or a change to the gene may occur at an early stage of the child’s development in the womb.

In the remaining cases, there’s no faulty gene and only one eye is affected.

What is the new NHS genetic test being rolled out?

The new non-invasive NHS test has been developed at Birmingham Women’s and Children’s NHS Foundation Trust.

It can detect genetic changes that cause retinoblastoma and will be offered to pregnant women with a known family history of the disease - which is often discussed during pregnancy appointments.

For the test, a blood sample is taken from the mother before birth and tested and analysed for mutations.

This can determine with almost 100% accuracy if the baby will develop retinoblastoma.

The test looks for a mutation in the RB1 gene.

About nine in 10 children who are born with an RB1 mutation develop retinoblastoma.

Picking up the cancer this early means treatment can start on the affected eye as soon as the baby is born, with doctors closely monitoring the other eye for any signs.

The test can also predict if the disease might develop in siblings.

NHS chief executive Amanda Pritchard said: “The introduction of this pioneering new test is fantastic news for babies and their parents, and has the potential to save hundreds of lives over the coming years.

“Cancer is such a terrible illness and a baby being born with it can have a huge impact on parents and families during what should be an incredibly happy time.”

She added: “But, backed by world-class innovation and services like the NHS Genomic Medicine Service, through the Long Term Plan, the NHS is developing and delivering more cutting edge treatments like this one to help save lives and keep families together.”

The test is one of more than 15 new tests and amendments being added to the National Genomic Test Directory, which sets out the genomic tests for disease available through the NHS Genomic Medicine Service.

The directory covers more than 3,000 rare diseases and over 200 types of cancer.

Who took part in the trial?

Siani Bainbridge, 22, from County Durham, took part in the trial of the test and discovered her infant son Oscar had retinoblastoma.

She had retinoblastoma as a child and feared her infant son Oscar might also carry the faulty gene.

She said: “Given that the tumours were quite severe when he was born, the fact he could be treated straight away definitely affected his outcome.

“It was nice to know the day he was diagnosed, it was ready, set go.”

Just a week after his birth, Oscar started cancer treatment, which involved chemotherapy and then laser therapy.

While doctors could not save the sight in one eye, he did not have his eyeball removed, and kept his sight in the other eye.

How is a child with retinoblastoma treated?

Children diagnosed with the disease will be treated by a specialist retinoblastoma team at either The Royal London Hospital or Birmingham Children’s Hospital.

But if a child needs chemotherapy, this will usually be carried out at a local children’s cancer centre and overseen by the retinoblastoma team at one of the 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 rare in the UK)

Help and 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.

If you have any worries you can discuss them with the specialist teams.

They’ll be able to put you in touch with the parents of children who have recently been diagnosed with and treated for retinoblastoma.

The Childhood Eye Cancer Trust (CHECT) can give you further information about retinoblastoma.

You can contact them on 020 7377 5578 (Monday to Friday, 9am to 5pm) or by email: [email protected].

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

Macmillan operates a similar helpline on 0808 808 00 00 (daily, 8am to 8pm).