Information for GPs

Retinoblastoma summary

Retinoblastoma (Rb) is the most common malignant tumour of the eye in children and accounts for 3% of all childhood cancers. It can occur either unilaterally or bilaterally and generally develops before the first five years of life.

Tumours develop in the retinal cells which are developing rapidly in early life. The process of cell development continues throughout infancy and the retina is fully developed at approximately five years of age.

It is a life threatening disease but 98% of children survive retinoblastoma in the UK. Over the past four decades, the management of this disease has evolved tremendously, changing from a deadly childhood cancer to a largely curable disease.

A swift referral pathway for a suspected case is vital to reduce loss of vision and the risk of mortality.

To learn more read our Would you recognise it leaflet.

• Epidemiology
• Presentation
• Referral
• Adult patients after retinoblastoma
• More information

Epidemiology

• Retinoblastoma occurs in about 1:20,000 live births.
• 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 Rb and wish to have children should be offered genetic counselling and testing.
• Babies who may have inherited retinoblastoma must be screened from birth.

Presentation

There are several signs which could indicate retinoblastoma but it is important to remember that a child with retinoblastoma may appear systemically well.

The initial signs are confined to the eye. Leukocoria and strabismus are the most common presentations. If any child presents with one of the following, a red reflex test must be performed with a direct ophthalmoscope (see also: Would you recognise it leaflet).

Red, sore eye

• Nystagmus.
• Parental history of retinoblastoma – the condition can be heritable so children of an affected parent with retinoblastoma, or with affected siblings, must be screened from birth.
• Parental concern over vision or eye appearance.

Referral

A simple red reflex test can determine whether an urgent referral is necessary. Early diagnosis is vital in order to save life and reduce the lifelong impact of the disease on the child. If you are unable to confidently rule out retinoblastoma with a 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).

Remember:

• Carry out a red reflex test in every case of parental concern.
• White pupillary reflex (leukocoria) or a squint (strabismus) are the most common signs.
• Children with retinoblastoma usually show no other signs of illness to alert you to the condition.
• Just because it’s rare, doesn’t mean it isn’t there.

Adult patients after retinoblastoma

For some people, the effects of retinoblastoma can be life-long. Read our information on supporting patients after retinoblastoma to find out more.

More information

We have a resources for healthcare professionals section to help you with every stage of supporting a patient affected by retinoblastoma.

For referrals and information contact the Rb teams in London and Birmingham at:

• Royal London Hospital retinoblastoma service 020 3594 1419
• Birmingham Children’s Hospital retinoblastoma service 0121 333 9475