What is retinoblastoma?

Retinoblastoma (Rb) is a malignant tumour, which develops in the cells of the retina – the light sensitive lining of the eye. About two thirds of children with retinoblastoma have only one eye affected (unilateral), and one third have both eyes affected (bilateral).

In very young children who are diagnosed with retinoblastoma in one eye, it is possible for a tumour to develop in the second eye several weeks or even months afterwards. The number of tumours found in the eye also varies; sometimes only one tumour develops at the back of the eye or there can be several tumours, and these may require more than one type of treatment. Retinoblastoma has one of the best cure rates of all children’s cancers, with more than 9 out of 10 children being successfully treated.

How common is retinoblastoma?

Retinoblastoma is one of the less common childhood cancers and accounts for only about three percent of all cancers under the age of 15. In the UK between 40 and 50 children develop retinoblastoma each year. The tumour usually develops before the age of five years and some children are born with retinoblastoma. Children with bilateral retinoblastoma tend to present during the first year of life, while the peak age of diagnosis for children with unilateral retinoblastoma is two and a half years. Only a small number of cases are diagnosed after the age of five years.

What causes retinoblastoma?

Retinoblastoma occurs in two forms: a genetic, inheritable form, and a non-genetic, non-inheritable form.

Signs and symptoms of retinoblastoma

The most common signs of retinoblastoma is leukocoria. 

Leukocoria is an abnormal appearance of the pupil which tends to reflect light as a white reflex (like a cat’s eye)

A child's eyes displaying leukocoria

Squint is a condition where the eyes point in different directions. Although a squint can be normal in children, it is always worth having it checked to make sure.

A child's eyes showing a squint

Absence of a red reflex in flash photographs.

A child's eyes showing one has no red reflex in the camera's flash

Swollen, red or sore eye that doesn’t have an infection.

A child's eyes showing one swollen closed

A change in the colour of the iris.

A child's eyes showing the irises are two different colours

Diagnosis and investigation

The diagnosis of retinoblastoma is made by an eye specialist known as an ophthalmologist. The ophthalmologist will examine your child’s eyes under a general anaesthetic.

Treatment of retinoblastoma

There are a number of different methods of treatment available and the decision as to which is the most suitable will be made by your child’s ophthalmologist, who will take into account the size, location and number of tumours within the eye/s and the also the potential to save vision.

For clinicians

The earliest method of retinoblastoma detection is by red reflex assessment. To assist GPs and health visitors with this assessment we, along with The Childhood Eye Cancer Trust, have developed this guide.

Method

Sit in front of the child and parent at about arm’s length. Set the ophthalmoscope to around +2 (green or black) and focus on the parent’s eyes to show that the test is non-invasive and recognition of the normal red reflex in that particular ethnic group. Then focus on the child’s face and encourage the child to look at the light. Focus on the red reflex within the pupil.

Outcomes

Please show these images to parents as they may have taken photographs demonstrating usual red reflexes.

A child's eyes showing normal red reflex

Normal red reflex = no referral

A child's eyes showing asymmetry of red reflex

Red reflex absent. Obvious +/-asymmetry = urgent

Unsure/difficult assessment = paediatric ophthalmology primary care clinic referral

A child's eyes showing abnormal red reflex

Red reflex abnormal = urgent referral Red reflex abnormal.

Referring patients to the retinoblastoma service

All referrals should be made to either Mr. Reddy or Mr. Sagoo by fax on: 020 3594 3262.

Barts Health NHS Trust
The Royal London Hospital
The Retinoblastoma Service
6th Floor
Whitechapel Road
Whitechapel, E1 1BB

Tel: 020 3594 1419

For patients

If your GP or local ophthalmologist feels that your child needs to be investigated for retinoblastoma, they will send an urgent referral to the retinoblastoma service at The Royal London.

Your visit

All examinations under anaesthetic and treatments take place on Daycare Ward, 6th Floor of The Royal London.  

If your child is having treatment that requires them to stay in hospital over night they will stay on an inpatient ward.

If you have an outpatient appointment this will take place in the Eye Clinic at the Royal London Hospital. The Eye Clinic is located on the 6th Floor in Clinic 2.

Contact us

The Royal London Hospital
Whitechapel Road
Whitechapel
London, E1 1BB

Tel: 020 359 41419

Accommodation

The retinoblastoma service has an agreement with a local hotel for family accommodation on the night before admission. If you require accommodation speak to a member of the retinoblastoma team so they can arrange this for you.

Support

If you have any concerns or questions during your child’s stay, the medical staff are happy to help. Even if we are busy, we will always try to make time to listen and give you the information you need. 

The Trust offers many advice and support services for patients and visitors. aAsk a member of the team to find information on these services and how to access them, and also ways you can get involved to help make improvements.
 
There are several support groups for patients and parents of patients with retinoblastoma:

The Childhood Eye Cancer Trust

We have close links with The Childhood Eye Cancer Trust (CHECT) who have staff based at our hospital. They provide a support network and information for families who would like to know more about this rare condition.

Association of Cancer online resources

There are also two north American based online forums for patients and families with retinoblastoma. Registration is required to access these pages. These can be found on the Association of Cancer online resources website.

Retinoblastoma Genetic Screening Unit

The Barts Health Retinoblastoma Genetic Screening Unit (RGSU) is one of only two genetics centres for retinoblastoma in the UK. We provide a genetics service for patients and their relatives, performing molecular tests for predisposition to retinoblastoma.  We work closely with our colleagues in the Barts Health clinical service, which is a designated provider of retinoblastoma care in England and Wales.

This information is for healthcare professionals, offering details and guidance about the services of the Retinoblastoma Genetic Screening Unit.  Our Retinoblastoma Genetic Screening User Manual 149KB  contains information needed for genetic counsellors and physicians to submit specimens to the Unit. Please complete a Request Form 59KB and ensure that you have the patient or parent/guardian's consent before making a request.

The Unit participates in the external quality assessment scheme organised by the European Molecular Genetics Quality Network (EMQN) and is UKAS accredited (United Kingdom Accreditation Service); Laboratory no. 8285. 

For further enquiries, please contact us.

 

Retinoblastoma Eloise Patterson Project

The Eloise Patterson Project

The Retinoblastoma Genetic Screening Unit (RGSU) is undertaking a research study.   This is the Eloise Patterson project funded by the Greendale Foundation through Childhood Eye Cancer Trust (CHECT) to investigate retinoblastoma gene mutations and the risk of second cancers. 

For further details about this project, including information on how we handle personal data, please see  Eloise Patterson project - Privacy Information [pdf] 125KB

The Barts Health privacy notice is available here.

The aim of the research

The Retinoblastoma Genetics Unit is planning a study using data from retinoblastoma (Rb) patients with heritable or genetic cancer (the type where other family members may be affected).  Patients with this type of Rb have a small chance of developing other cancers.  

This study wants to look at any links between the different types of genetic changes in Rb, and other kinds of cancer that can follow later. Do some types of change increase or decrease the chance of getting other cancers? We hope that this will give doctors more information when working out the chance of other cancers occurring. This could lead to earlier detection and treatment of these cancers.

To do this we need to use information about patients with Rb - such as name, birthdate, and NHS number. This will let us match information about a person’s Rb gene change to that on any later cancers that they may have had.  The personal data will be used only for a short time; once the match is made then the personal data will be removed.  It will then not be possible to identify the patients in the study.  Ethical approval has been given for the use of personal identifiable data in this study, but because we will be using data going back over many years we cannot get individual consent from everyone whose data we wish to use.

An online survey of patient opinion about this work was carried out in 2018, and the response was favourable.  Our application for data release has now been accepted by Public Health England.

If you do not want your/your child's data to be used in this work then you can get in touch to let us know. Contact Zerrin Onadim (Head of Retinoblastoma Genetics Unit) on 020 3246 0265 / z.onadim@nhs.net.

Your details will not then be used for this work.

If you would like to talk to anyone about heritable Rb and / or second cancers, you can contact either Dr Elisabeth Rosser (020 7762 6856 /  elisabeth.rosser@nhs.net) or your support workers at the Childhood Eye Cancer Trust, via Lesley Geen (020 7377 5578 / lesley.geen@chect.org.uk).

Thank you