Information for professionals
Retinoblastoma (Rb) can occur either unilaterally or bilaterally and generally develops before the first five years of life.
It is a life threatening disease but 98% of children survive retinoblastoma in the UK.
A swift referral pathway for a suspected case is vital to reduce loss of vision and the risk of mortality.
Epidemiology
- Between 40-50 cases are diagnosed each year in the UK.
- Can be unilateral or bilateral.
- No gender or race predisposition.
- Retinoblastoma can be heritable so adults who had retinoblastoma and wish to have children should be offered genetic counselling and testing.
- Babies who may have inherited retinoblastoma must be screened from birth.
Presentation
The initial signs are confined to the eye, so a child with retinoblastoma may appear systemically well. Leukocoria (white glow in the eye) and strabismus (squint) are the most common presentations. If any child presents with one of the following, a fundal (red) reflex test must be performed with a direct ophthalmoscope.
White eye or glow
You might see a white glow in the eye, when your child is in artificial light or a darkish room. Some people notice a white reflection in a photo where a flash has been used. This is sometimes described as a ‘cat’s eye’, or a white pupil. This may only be seen once but in some cases it’s present all the time. The medical term for this white eye reflex or reflection is leukocoria.
Change in iris colour
The iris – the coloured part of the eye – can change colour in one eye, sometimes only in one area.
Squint, or turn in the eye
A squint, where the eyes do not look in the same direction, can sometimes be a symptom of retinoblastoma. In most cases, it’s nothing serious, but all children should be checked out just in case.
Deterioration in sight
Your child’s vision may begin to deteriorate, or they may have had poor vision from birth. You may notice that they don’t focus, fix and follow as well as other children of the same age.
Red, sore or swollen eye
Your child’s eye may become very red and inflamed for no obvious reason – and with no sign of infection. This symptom is usually accompanied by one or more of the other signs described here.
No red eye
In a photo where one eye has “red eye” (which is normal), the other eye may look black. This can be a sign that something is not right.
Other factors to consider:
- Nystagmus.
- Parental concern over vision or eye appearance.
Referrals:
If you are unable to confidently rule out retinoblastoma with a fundal (red) reflex test NICE guidelines state an urgent referral 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).
Urgent referrals should be made to the local ophthalmology department stating ‘suspected retinoblastoma’. We recommend you call through to alert them to this case and to find out the speed with which their urgent referrals are seen (in some cases it can be longer than two weeks).
Genetics:
Although retinoblastoma is a cancer of childhood, the effects can be lifelong. Around 45% of cases are heritable, so anyone who has had retinoblastoma should have genetic testing and counselling. Depending on the individual’s genetic status and treatment received, they may require ongoing monitoring for possible late effects and second malignancies.
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