Symptoms and signs

  • Leukocoria (unusual white appearance to the pupil)
  • Strabismus (squint)
  • Nystagamus
  • Inflamed, swollen eye
  • A change in iris colour of the affected eye
  • Deterioration in vision (absence of fixing and following in a young baby)

Identifying in General Practice

If a child presents to general practice with any of the above symptoms,  a red reflex test should be performed with a direct ophthalmoscope. There is an excellent leaflet producted by the Childhood Eye Cancer Trust (CHECT)  interpreting red the red reflex test in General Practice: Retinoblastoma, would you recognise it? 

​Retinoblastoma is a relatively rare cancer of the retina affecting about 40 children a year in the UK. It is an embryonal tumour and, as such, most cases occur in very young children. Mean age of diagnosis is 4 months.

About 40% of cases are hereditable, and the tumour can be unilateral or bilateral. Children with the heritable form will also have an increased risk of developing other types of cancer later in life.

All children born into families with a history of retinoblastoma will be screened regularly during their first 5 years of life so treatment can be commenced early.

​Couples with strong family history should be referred to specialist genetic services if planning pregnancy or if expecting a baby for counselling regarding retinoblastoma risk and screening. 

​Where there is no family history, the first sign of retinoblastoma is often a white pupil that does not reflect the light (leukocoria) often seen on photographs.

Treatment

Smaller tumours can be treated locally with laser therapy to destroy the tumour.

For slightly larger tumours, a small radioactive disc (known as a plaque) may be attached to the outside of the eye for up to four days to destroy the cancer cells.

Larger tumours may need to be treated with chemotherapy, radiotherapy or surgery (enucleaction). At a later date, children who have had an eye removed may receive a prosthesis.

​Advances in the diagnosis and treatment of retinoblastoma gives it a 5 year survival of over 99%.

Survival may however be at the expense of all or some of the child’s sight.

Image taken from CHECT, with thanks.

Advice from the Childhood Eye Cancer Trust (CHECT) for GP's:

  • Carry out a red reflex test in every case of parental concern affecting the child's eyes.

  • 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.

  • As CHECT state, just because it’s rare, doesn’t mean it isn’t there.