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Saturday / April 13.
HomemieyecareRetinoblastoma and the Tell-Tale White Pupil

Retinoblastoma and the Tell-Tale White Pupil

When Aayan Rao’s parents queried the white spot on their son’s pupil, they were told it was a beauty spot. Not satisfied, his mother turned to the web. Google identified it as retinoblastoma.

While earlier diagnosis would not have saved their son’s sight – or even prevented enucleation – his father is now on a crusade to promote awareness of the childhood eye cancer.

Aayan Rao’s vision has adapted perfectly to having just one sighted eye, but the two-year-old’s sleep is regularly interrupted by night terrors. And he screams in panic, if he catches a glimpse of his empty eye socket in a mirror.

His father, Arok Rao, from Darwin, is worried about how the tot will adapt to daycare and, ultimately, school. He’s fearful about how his child will deal with the questions and taunts of other children. He worries about the day-to-day logistics of caring for a prosthetic for a little boy who, like all children his age, is a bundle of energy.

But Mr. Rao is not just worried for his own son. He is concerned about other children with retinoblastoma, an uncommon eye cancer that usually affects children under the age of five, and the lack of awareness of the condition that he and his family have encountered in the general medical profession.

“It was looking like a white O-ring. The doctor still said it should not be a problem”

Mr. Rao and his wife, Akshata, queried first their newborn’s squint, and then later the telltale white pupil, only to be told it was a “beauty spot”.

“We trusted what the doctor said. It is so frustrating. We hold a great trust in our doctors, and they should refer to a specialist, if they don’t know. That’s their job – if they are not fully aware of what they are looking at, they need to refer (a patient) on.”

Causes of Retinoblastoma

Retinoblastoma develops in the retina. The genetic form of the disease, which accounts for approximately two in every five cases, often causes tumours in both eyes, while the non-heritable form, is usually unilateral.

In the case of a family history of retinoblastoma, children are screened soon after birth, and this is repeated every few months for the first five years. These children are often diagnosed by screening well before the first symptoms appear.

But in Aayan Rao’s case, there was no family history of retinoblastoma or any other form of cancer. He was a healthy child, with beautiful dark brown eyes.

Aayan’s parents had moved to Australia from India before he was born, and settled in Darwin where Arok worked as a warehouse supervisor and Akshata was a customer service executive. Aayan was born on a trip back to India, and first arrived in Australia at the age of eight months’ old, when his parents’ application for permanent residency was granted.

“He was born with a little squint,” Mr. Rao recalls. “We went to the doctor (in India) when he was about one month old and we were told it was not a big deal. He said that when he turns nine-months’ old, we should do a check-up.

“That was the first stage. We came to Australia and we went to a doctor here at nine months.”

Mr. Rao said the doctor – a general practitioner – examined the child’s eyes and declared them to be normal.

A few months later, a small white spot began developing in the pupil.

“It was looking like a white O-ring. The doctor still said it should not be a problem.”

The couple took their child back to the doctor again in March. They were preparing for a trip to India and wanted to ensure Aayan’s vaccinations were up-to-date.

“While we were there, we insisted he have a look at Aayan’s eye. We found it weird. One eye was completely clear and the other had a white spot.

“The doctor came to the conclusion that it was a beauty spot. He (the doctor) said his own wife had one as well and not to worry.”

But the couple was uneasy with the doctor’s assurances, and started trawling the Internet. Mrs. Rao quickly discovered that the white pupil was a classic symptom of retinoblastoma.

“We were about to take a flight from Darwin to Bangalore… (once there) Akshata went straight to an ophthalmologist. The ophthalmologist said it was something serious and referred Aayan to a paediatric ophthalmologist. He immediately said it was retinoblastoma and gave us two options: removal or chemotherapy.”

Mr. Rao said further tests revealed the tumour was too advanced for chemotherapy and enucleation was the only treatment available.

“So on the 16 April, we had the surgery done on him and had the eye removed… it all started with such a little thing. We were so confident that we had done so many tests… we trusted what the doctors said but the tumour was growing from the time he was eight months’ old. We were not aware of what was happening.

“Why would this happen to us? We’re just a normal family. But the tumour had spread across the optic nerve,” Mr. Rao said.

Education Campaigns

Former President of the Royal Australian New Zealand College of Ophthalmologists Professor Frank Martin AM said he was surprised the possibility of a tumour was missed by the general practitioners.

Retinoblastoma, he said, was the subject of general information campaigns such as the annual JulEYE campaign. (JulEYE is the RANZCO Eye Foundation national eye health awareness month, and many of its education campaigns target children’s eye health.)

Professor Martin said the signs and symptoms of retinoblastoma were taught to all medical students and general practitioners were regularly sent updates on this and other eye diseases. He said other medical professionals, such as nurses, received regular education updates on conditions such as retinoblastoma.

Professor Martin said the white pupil was often only seen when flash photography was used, but was sometimes visible to the naked eye in certain lights.

He said occasionally white pupils were seen in photos taken with a flash simply as a result of a “funny reflection” but that all such cases should be referred to an ophthalmologist immediately.

“I would rather see them, and rule out a tumour – that it’s all right – than to miss them,” Professor Martin said.

Saving the Whole Child

“We really need to do two things. Where any child is presented with strabismus, it needs to be seen early. It is an early manifestation of retinoblastoma or other diseases of the eye and needs to be referred on for full evaluation.

“If a child has a white pupil, you have got to suspect the possibility of tumour,” Professor Martin said.

While unfamiliar with Aayan Rao’s case, he said the child would likely require a new prosthesis every year, as his eye socket grew.

He said it was extremely unlikely that earlier action by a general practitioner would have saved the boy’s eyeball, and enucleation was now the standard treatment for advanced retinoblastoma.

“By the time the white pupil is clear, the disease is so advanced that enucleation is unavoidable,” Professor Martin said.

A RANZCO spokeswoman told mivision that the emphasis had to be on “saving the whole child, not just the eye”, and referred to a 2011 study, which retrospectively analysed 100 eyes removed from children with retinoblastoma in Beijing. Of the total, 45 were treated with enucleation and 55 with chemotherapy.

The study revealed retinoblastoma is best treated by removing the eye promptly and not trying to save a child’s vision with chemotherapy, as the treatment tends to mask the spread of the cancer into the brain.

There were no deaths in the patients who had an eye removed soon after diagnosis. However, five of the patients who had chemotherapy first – which delayed surgical removal of the eye by about three months – died. That is a death rate of 17 per cent.

Before chemotherapy became the popular treatment, retinoblastoma used to be treated with radiation, until researchers realised that the side effects of radiation were killing more children than the
cancer itself.