Childhood Eye Cancer Awareness: Understanding Retinoblastoma and How You Can Help

Why We’re Supporting the Childhood Eye Cancer Trust

At Bellamy Eyecare we do more than test eyes – we spend time with clients getting to know them and anything affecting their eye health. Over the years I have come across several people affected either directly or indirectly by retinoblastoma. Of course, anything affecting young children tugs at the heart strings and the resilience and experiences of those people showed us why early detection and support matter so much.

It is these personal stories that inspired us to partner with the Childhood Eye Cancer Trust (CHECT) for the next twelve months. CHECT is the UK’s leading charity dedicated to families affected by retinoblastoma. They provide emotional support, raise vital awareness and fund research into better treatments. By amplifying CHECT’s message, raising funds and sharing what we’ve learned, we hope to help every family facing this diagnosis get the prompt care they need. Early detection really does save sight and lives, and together we can make a real difference.

What Is Retinoblastoma?

Retinoblastoma is a type of childhood eye cancer that forms in the retina – the light‑sensitive tissue at the back of the eye. It is the most common eye cancer in children under five, although, fortunately, it remains quite rare overall. According to the National Cancer Institute, retinoblastoma typically appears in very young children and accounts for roughly 3 % of all childhood cancers cancer.gov. Most cases are diagnosed before the child’s second birthday, and this early presentation is crucial for successful treatment and preserving vision.

Retinoblastoma develops when cells in the retina grow uncontrollably and form a tumour. This happens because of changes (mutations) in a gene called RB1, which normally acts as a brake on cell division. In some children these mutations are inherited, while in others they occur spontaneously during early development. Whatever the cause, retinoblastoma is classed as a cancer of the eye – one that requires prompt, specialist care. Thankfully, with modern treatments, survival rates are excellent when the disease is caught early and confined to the eye.

How Common Is Retinoblastoma?

Although retinoblastoma is the most common eye cancer in childhood, it is still rare. Worldwide, only about one in every 16,000 to 18,000 live births is affected. In the UK, roughly 40 to 50 children are diagnosed each year – that’s around one child every week. It affects boys and girls equally and doesn’t seem to favour any particular ethnic group. Because it often develops in babies and toddlers, parents and carers play a key role in spotting the earliest signs.

Despite its rarity, retinoblastoma has one of the highest survival rates of all childhood cancers. In high‑income countries like the UK, survival exceeds 98 % . That success story is due in large part to early detection and improved treatments. However, survival in low‑income countries remains much lower due to late diagnosis and limited access to specialist care. These disparities highlight the importance of global awareness and advocacy.

Genetic and Inherited Risk

Retinoblastoma arises when both copies of the RB1 gene stop working properly. This can happen in two ways:

• Hereditary retinoblastoma – About 40 % of children with retinoblastoma are born with an RB1 mutation already present in all their cells. This inherited form often affects both eyes and tends to appear at a younger age. Children with hereditary retinoblastoma have a 50 % chance of passing the mutation to their own children later on. Genetic counselling and testing are therefore recommended for affected families.

• Non‑hereditary retinoblastoma – In the majority of cases (around 60 %), both gene changes occur in a single retinal cell after birth. This sporadic form usually affects one eye and isn’t passed down to siblings or future children.

Understanding whether a child has hereditary or non‑hereditary retinoblastoma helps doctors decide on screening for siblings and future pregnancies. In the UK, families can access genetic counselling through the NHS, and early eye examinations can detect tumours before symptoms appear.

Recognising the Signs and Symptoms

The most common signs of retinoblastoma are often discovered by parents or relatives rather than the child themselves. Because this childhood eye cancer affects very young children, they may not notice or communicate changes in their vision. Watch out for these key indicators:

• A white or yellow reflex in the pupil: Known as leukocoria, this is often seen in flash photographs where one eye appears white rather than red. It may also be visible when light shines into the child’s eye.

• A turn or squint (strabismus): Eyes that don’t line up or move together can indicate a problem.

• Poor vision or unusual eye movements: Babies may struggle to focus or track objects. Sometimes a parent notices that a child is clumsy or misjudges distances.

• Red, sore or swollen eye: Although less common, persistent redness or swelling without signs of infection should be checked.

It’s important to remember that many of these symptoms can be caused by conditions other than retinoblastoma. However, any of these signs warrant an urgent examination by a health professional. Early diagnosis is key to saving the child’s vision and life.

How Retinoblastoma Is Diagnosed

If a GP or health visitor suspects retinoblastoma, they will refer the child to a specialist eye centre. Diagnosis usually involves a detailed eye examination under general anaesthesia, allowing a paediatric ophthalmologist to look for tumours inside the eye and assess their size, number and location. Imaging techniques such as ultrasound and magnetic resonance imaging (MRI) show how far the tumour has grown and whether it has spread along the optic nerve; these scans are painless and provide vital information for planning treatment.

Genetic testing, using a blood sample, can reveal whether the child carries an inherited RB1 mutation, guiding treatment and follow‑up for the child and family; prenatal testing of cell‑free fetal DNA is also available for families with known RB1 mutations. A newer technique called liquid biopsy analyses fluid from the eye (aqueous humour) or blood to detect tumour DNA; although still in development, this non‑invasive test may one day monitor treatment response and spot recurrence earlier.

Staging and Classification

Once retinoblastoma is diagnosed, doctors classify the tumour to decide on the best treatment. The International Intraocular Retinoblastoma Classification (IIRC) labels tumours from Group A to Group E based on tumour size, location and whether the cancer has spread within the eye; Group A tumours are small and easy to treat, whereas Group E eyes are severely affected and may require removal. Another system, AJCC staging, considers tumour size (T), lymph node involvement (N), metastasis to other parts of the body (M) and the presence of an inherited RB1 mutation (H); this framework predicts survival and guides decisions about systemic therapy. Knowing the classification helps families understand the likely course of treatment and prognosis.

Treatment Options Explained

Treatment aims to cure the cancer, save the child’s life and, when possible, preserve the eye and vision. Because each case is unique, doctors tailor therapy to the child’s age, the size and location of the tumours and whether both eyes are affected. Here’s a look at the main treatments used today:

Local Treatments for Small Tumours

Local treatments are designed to destroy the tumour while minimising damage to healthy eye tissue and are often used after chemotherapy has reduced the tumour’s size. Laser therapy uses either photocoagulation or thermotherapy; a laser targets the blood vessels feeding the tumour or heats the tumour directly to destroy it. This treatment is ideal for small tumours at the back of the eye and may be combined with chemotherapy. Cryotherapy employs a very cold probe to freeze the tumour cells, causing them to die; it is typically used for small tumours near the edge of the retina. Plaque brachytherapy involves placing a tiny disc containing radioactive material on the outside of the eye, directly over the tumour. This disc delivers high‑dose radiation to the tumour with minimal exposure to the rest of the eye and is removed after a few days.

Systemic and Regional Chemotherapy

Chemotherapy uses medicines to shrink tumours or kill cancer cells and can be delivered in different ways. Systemic (intravenous) chemotherapy involves giving a combination of drugs through a vein; the therapy circulates throughout the body, helping to reduce the size of tumours in both eyes and making them easier to treat locally. Studies have shown that six cycles of a regimen containing carboplatin, etoposide and vincristine are effective, though shorter courses may also work.

Intra‑arterial chemotherapy (IAC) delivers drugs directly into the artery supplying the eye, allowing higher concentrations to reach the tumour while reducing systemic side effects. IAC is often used for more advanced tumours in one eye and has significantly improved eye‑saving outcomes, especially when combined with intravitreal injections. Intravitreal chemotherapy (IViC) involves injecting tiny doses of drugs such as melphalan or topotecan directly into the jelly‑like centre of the eye to treat tumour seeds floating in the vitreous; this approach has dramatically increased the chances of saving eyes with advanced disease. Periocular and intracameral chemotherapy delivers medication around or inside the eye to tackle tumours or seeding in specific compartments.

Surgery

When tumours are large or unresponsive to other treatments, surgery may be necessary. Enucleation – removal of the eye – is the safest option when there are multiple tumours causing pain or when there’s a high risk of spread beyond the eye. While losing an eye is understandably distressing, enucleation is life‑saving and has a very high cure rate. After the procedure, a prosthetic eye is fitted so that a child can grow up with a natural appearance and full confidence. Tylectomy is a surgical removal of the tumour while leaving the eye intact. This approach is still considered experimental due to concerns about tumour cells spreading during surgery, but some specialist centres report promising results.

Radiotherapy

Modern radiotherapy is much more targeted than it used to be. It is generally reserved for tumours that don’t respond to other treatments.
Modern radiotherapy is much more targeted than it used to be and is generally reserved for tumours that don’t respond to other treatments. Plaque radiotherapy delivers radiation directly over the tumour via a small disc, as described above. External beam or proton therapy can also be used to focus radiation on the tumour when needed; however, because of potential long‑term side effects such as affecting facial bones and increasing the risk of other cancers, it is used sparingly in children.

Emerging Treatments and Research

Research into retinoblastoma is continually advancing. Among emerging treatments, chemoplaque is a device that slowly releases chemotherapy against the tumour and early trials show promise. Photodynamic therapy (PDT) uses light‑activated drugs to kill cancer cells without harming healthy tissues, and experimental photosensitisers like TPE‑IQ‑2O have shown encouraging results in animals.

Immunotherapy is another exciting area; laboratory research using CAR T‑cells targeting glypican‑2 (GPC2) has led to tumour regression in mice, and monoclonal antibodies such as naxitamab have achieved long‑term remission in some children with metastatic disease. Scientists are also exploring gene therapy and viral vectors to restore normal RB1 function in tumour cells, with early studies using an adenovirus vector called VCN‑01 reducing tumour growth in animals.

While these approaches are not yet standard treatments, they offer hope for children with advanced or relapsed retinoblastoma.

Life After Treatment and Prognosis

Most children treated for retinoblastoma in the UK go on to lead healthy, fulfilling lives. The five‑year survival rate exceeds 90 % for tumours confined to the eye. Factors affecting prognosis include the size and number of tumours, whether the cancer has spread beyond the eye, the child’s age at diagnosis and, in hereditary cases, the presence of other health issues.

Even when the eye is saved, vision may not be perfect. Some children experience reduced acuity or peripheral vision loss, while others retain normal sight. Regular follow‑up appointments are essential to monitor for recurrence, secondary cancers and any late effects of treatment. Children with hereditary retinoblastoma need lifelong surveillance, as they have a higher risk of developing other tumours such as osteosarcoma or melanoma.

Emotional and practical support is available through CHECT and other organisations. They offer counselling, peer support and information resources for families navigating diagnosis, treatment and life after retinoblastoma.

Our Commitment to CHECT and How You Can Help

Over the next year, Bellamy Eyecare will host fundraising events, donate a portion of selected eyewear sales and share educational materials to support CHECT’s invaluable work. Every penny raised will help fund research into better treatments, support families through diagnosis and provide educational resources for healthcare professionals. You can get involved, too. Even small contributions make a big difference, so please visit CHECT’s website to make a one‑off or monthly donation.

Another way to help is by sharing this blog and information about retinoblastoma with friends and family; the more people recognise the signs, the more lives and eyes can be saved. If you’re a parent or carer, ensure your children have regular eye check‑ups, because early detection can happen during routine examinations. Together, we can help ensure that no child loses their sight or their life to this rare eye cancer.

Frequently Asked Questions about Retinoblastoma

How common is childhood eye cancer? Retinoblastoma is rare. Only about 40–50 children are diagnosed each year in the UK. Globally, it affects one in 16,000–18,000 live births.

What are the chances of survival? In high‑income countries like the UK, more than 98 % of children survive retinoblastoma. Survival depends on early detection and whether the tumour has spread beyond the eye.

What causes retinoblastoma? The cancer develops when both copies of the RB1 gene stop working. In about 40 % of cases this is inherited. The rest occur spontaneously. It is not caused by injury or infection.

What are the early signs? A white or yellow pupil reflex in photographs, a squint, unusual eye movements or a persistently red or swollen eye . Any of these should be checked urgently.

How is it treated? Treatments include local therapies like laser and cryotherapy, chemotherapy delivered systemically or directly into the eye, radiotherapy and sometimes surgery to remove the eye. The goal is to cure the cancer while saving as much vision as possible.

Will my child lose their eye? Not necessarily. Many eyes can be saved with modern therapies. However, enucleation is sometimes the safest option and offers a high cure rate.

Is retinoblastoma preventable? No. There is nothing parents can do to prevent the gene mutations that cause retinoblastoma. However, prompt recognition of symptoms and regular eye exams for high‑risk children can lead to early diagnosis.

Where can families find support? CHECT offers tailored support services including counselling, information resources and peer networks. Your local hospital’s play specialists and eye clinic liaison officers can also help.

Final Thoughts

Retinoblastoma is a rare but serious form of childhood eye cancer. Thankfully, early detection and advances in treatment have turned it into one of the great success stories of modern paediatric oncology. Here in the UK, specialist centres and charities like CHECT work tirelessly to ensure that every child receives the care they need, and that families never feel alone on their journey.

At Bellamy Eyecare, we believe that awareness saves sight. By partnering with CHECT, we hope to spread the word about retinoblastoma, raise funds for research and support families facing this diagnosis. If you have any concerns about your child’s eyes, please reach out – our friendly team is always here to listen, advise and provide expert care. Together we can safeguard the vision of the next generation and ensure that any child found to have childhood eye cancer has the best possible chance of the best possible outcome.