Retinoblastoma - would you recognise it?


About retinoblastoma (Rb)

  • White pupillary reflex (leukocoria) or a squint (strabismus) are the most common signs.
  • Children with retinoblastoma (Rb) usually show no other signs of illness to alert you to the condition.
  • Carry out a red reflex test in every case of parental concern regarding the eyes.

Between 50-60 cases are diagnosed each year in the UK. It can occur either unilaterally or bilaterally, generally before the first five years of life. Rb may be sporadic or inherited. The Rb gene (RB1 gene) is found on chromosome 13 and there are two copies of it.

Tumours develop in the retinal cells which are growing 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 heritable in 45%, and a child who inherits the altered Rb gene has a 90% chance of developing retinoblastoma, so screening from birth at an Rb treatment centre is vital for infants at risk.

Signs and symptoms

CHET Red Eye

Retinoblastoma is most commonly detected by parents. There are several signs (below) which could indicate retinoblastoma. It is important to remember that a child with Rb may appear systematically well.

  • Leukocoria: (intermittent) white pupillary reflex noticed in dim lighting or in a photo.
  • Strabismus: squint (retinoblastomas must be ruled out for all cases of squint in babies and children using a red reflex test).
  • A change in colour of the iris.
  • An absence of 'red eye' in one eye only in flash photographs.
  • Red, sore or swollen eye without infection.
  • A deterioration in vision.

If a child presents with any of the above, GPs must carry out a red reflex test with a direct ophthalmoscope.

How to perform a red reflex test - what to look for [PDF]


All suspected cases or cases where retinoblastoma cannot be ruled out by the test must be referred urgently to a local ophthalmology department. It is important to be aware that the child may be able to see (using the other eye) and will not be unwell despite having a life-threatening cancer in the eye. It is recommended that you call through to alert them and to find out the speed with which their urgent referrals are seen (in some cases it can be longer than two weeks). If the local ophthalmology department identifies or suspects retinoblastoma, an urgent referral is made to one of two NHS specialist retinoblastoma treatment centres in the UK - Birmingham Children's Hospital or the Royal London Hospital - for diagnosis and treatment.

The speed of referral is vitally important, as a swift referral can reduce the long-term impact of the disease and treatment of the baby or child. Although this cancer has a very high survival rate, many children live with the consequences of a delayed diagnosis. Late diagnosis for a child with Rb can mean:

  • Loss of one or both eyes.
  • Life with an artificial eye.
  • A visual impairment or, in some cases, complete blindness.
  • In unilateral cases, 70% of children will need their eye removed to save their life.

If a patient is referred to an ophthalmologist, it is appropriate to inform the patient about concerns and suspicions. This can be done by telling a child and his or her parents that a specialist eye examination is taken for many reasons, and that it is important to rule out anything serious.

NICE referral guidelines on suspected retinoblastoma

Information on referring


Retinoblastoma can be heritable, so adults who have had Rb and wish to have children should be offered genetic counselling and testing.

The Barts Health Retinoblastoma Genetic Screening Unit

Second cancers:

There is an increased risk of second primary cancers to those with the heritable form of Rb. Patients surviving this form of Rb have an increased risk of developing sarcomas within about 5 - 25 years of treatment. There are also at an increased risk of developing other forms of cancer into later life. The level of risk depends also on the treatment giving for Rb.

Information on caring for a patient who had Rb as a child

Further information

For referrals and information contact the Rb teams at:

The Retinoblastoma Service, The Royal London Hospital
Tel: 020 3594 1419

The Retinoblastoma Service, Birmingham Children's Hospital
Tel: 0121 333 9475

Childhood Eye Cancer Trust
Tel: 020 7377 5578

Childhood Eye Cancer Trust: information leaflet for health professionals [PDF]

Eye Health and Rare Diseases are two of the current RCGP Clinical Priorities. Find out more about Clinical Priorities here

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