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Sophie’s Retinoblastoma
It’s a classic text book of diagnosis. Little Sophie Ripley’s retinoblastoma was picked up in a family photograph.As reported in several news stories today, parents Tracey and David from Sheffield, were looking at a wedding snap when they noticed Sophie’s eyes were different colours and that the left one appeared to be ‘black.’
The discovery of the abnormality made them contact their GP, who warned them she could have a life-threatening tumor.
They were referred to a consultant who diagnosed bilateral retinoblastomas.
Despite being the most common eye tumour in children, and the third most common cancer in children, retinoblastomas are rare, with only 300 cases reported a year in the US, and approximately 40 in the UK. Children often present with leukocoria and strabismus. In some cases, the child may have also developed neovascular glaucoma and pain. Longstanding glaucoma can also cause buphthalmos. In many cases, tumours are initially detected by the parent who notices an absent or discoloured red reflex.
The death rate from retinoblastoma was nearly 100 percent a century ago, compared with 18 percent in 1964 and less than 10 percent in 1990. As the ability to treat and diagnose retinoblastoma improves, the survival rate should continue to improve.
In Sophie’s case, a unilateral enucleation was followed with chemotherapy on the fellow eye at Birmingham Children’s Hospital. Today, she is reported to be remission and is hoped that she makes a full recovery.
Peter Chapman // Jan 22, 2008 at 2:25 pm
Hi Jane,
I think this is an important reminder to us all regarding how our profession can diagnose serious pathology. Im sure most of us will detect a potentially life threatening condition at least once in our career. I’ve had mine, an occipital tumour in a patient in their 20’s.
I was always tought a rule: “think horse’s not zebra’s”.. i.e always consider the obvious first.. although this applies 95% of the time, sometimes the obvious does not always give a plausable diagnosis, so i now think i’s always worthwhile considering the rarer conditions, especially if the “story” doesn’t make sense!
Jane Macnaughton // Jan 23, 2008 at 2:28 am
I agree. Think the obvious first.
Interestingly, I noticed that in one or two of our own ‘family photographs’, an occasional ‘white pupil’ instead of the usual red reflex was apparent. I imagine that in those cases (as I know there is no retinal pathology), the white or pale reflex seen is the reflection off the disc. I may be wrong, but has anyone else had similar experience? One for the keen photographers amongst us I think.
David C. Brewster // Aug 28, 2008 at 10:53 am
My kids present this sort of bizarre ‘red eye’ often.
I suppose I need to have their eye doctor check for retinoblastoma when they next visit him?
I just know that the red eye algorithms don’t often work right on the kids (or me, for that matter)… I thought it was just “eye shine”. Using the online photo editor “picnik”, I can select the “animal” option on their red eye tool, but it’s usually only one eye at a time that lights up weirdly.
jane // Aug 28, 2008 at 11:28 am
Hi David - Always good to have any children checked up once a year even in the absence of anything unusual. If in any doubt give your practitioner a call - it is most likely that he/she will have checked them for retinoblastoma and any other retinal abnoramlites last time they have a check up.
I shall have a look at the online photo editor tools though - thanks.
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