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Squint a symptom in third of retinoblastoma cases in the UK

A third of babies and children in the UK diagnosed with childhood eye cancer have a squint as a symptom, according to new figures1.

The Childhood Eye Cancer Trust (CHECT) found that 33% of children diagnosed with retinoblastoma between 2012 and 2015 had a squint as a presenting symptom. It is the second most common symptom after the more commonly-associated leukocoria (69%).

Retinoblastoma (Rb) is a rare and fast growing eye cancer that affects babies and children under the age of six. Around one child a week is diagnosed in the UK and, while more than 90% of children will survive, an urgent referral and early diagnosis is essential to save a child’s sight, eyes and life.

CHECT released the figures today to mark Rare Disease Day, which aims to raise awareness about rare diseases and their impact on patients’ lives.

‘I thought I was going mad’

Stephanie Beasley first noticed there was something wrong with her daughter Ezmai’s eye when she was nine months old but she wasn’t diagnosed with Rb until she was two. Just a week later she had her left eye removed to stop the cancer spreading.

Stephanie, 25, from Tamworth, says: “Ezmai had a lazy eye and we spoke to a health visitor and then took her to the pre-school vision team but they told me to come back in six months. I kept taking her but they couldn’t find anything wrong.

“My instincts told me there was something wrong with Ezmai but I felt no one believed me and that I was going mad. We eventually got referred to Birmingham Children’s Hospital and it was there that we were told Ezmai had a tumour in her eye. We’ve since learned that she was probably blind in one eye for a year but as she was so young, we didn’t realise.”

Ezmai had the lifesaving surgery to remove her eye in October last year and fortunately the cancer hadn’t spread. She now wears an artificial eye and is adapting well to it.

Stephanie says: “Ezmai has to go under general anaesthetic every two months so that the doctors can check her eyes and we visit the artificial eye clinic every three months. She’s bounced back amazingly and coped so well with everything that has been thrown at her. We are so proud of her and we are now fundraising for CHECT to help raise awareness of Rb.”

The main presenting symptoms of children diagnosed with Rb in the UK between 2012 and 20151, were:

  • White reflection or glow – 69%
  • Squint – 33%
  • Change in colour of iris – 13%
  • Redness or swelling without infection – 9%
  • Roaming eyes/child not focusing – 9%
  • Loss of vision – 6%
  • Absence of red eye – 2%

Stephanie says: “We looked back at an old photo of Ezmai at Chrismas in 2014 and we can see a white glow in her eye but at the time we had absolutely no idea this could mean she had cancer.”

Patrick Tonks, Chief Executive of CHECT, says: “We urge GPs to ensure every case of squint in a baby or young child is checked with a red reflex test to rule out retinoblastoma. Children with Rb usually show no other signs of illness to alert you to their condition, so it is crucial to pay attention to parental concern about their child’s eye. Just because it’s rare, doesn’t mean it isn’t there.

“Although this cancer has a high survival rate, many children live with the consequences of a delayed diagnosis – which can include loss of one or both eyes.”

NICE guidelines state an urgent referral to the local ophthalmology department must be made for children with:

  • A white pupillary reflex (leukocoria). Pay attention to parents reporting an odd appearance in their child’s eye.
  • A new squint or change in visual acuity if cancer is suspected.
  • A family history of retinoblastoma and presenting with visual problems (screening is necessary from birth.)