This website is designed to offer physicians, ophthalmologists and oncologists information and guidance about the services of the Retinoblastoma Genetic Screening Unit. If you are a parent or carer looking for information about retinoblastoma, please visit the website of the Childhood Eye Cancer Trust.
In addition to our genetic screening services, Barts and The London also offers a clinical service for children with retinoblastoma. Please click here to view details of this service. To refer a patient to our clinical services at Barts and The London, please click here for referral guidelines.
Retinoblastoma (OMIM reference number 180200) is a rare form of eye cancer that occurs in children (it makes up 3% of all childhood cancers) that develops in the cells of the retina, the light sensitive lining of the eye. It often occurs before the age of 5 years with an incidence of approximately 1 in every 20,000 births. The majority of retinoblastoma patients (85%) have no family history of the disease. In 15% of cases, however, a blood relative has also had retinoblastoma.
In about two thirds of children only one eye is affected (known as unilateral retinoblastoma) while the remainder develop tumours in both eyes (known as bilateral retinoblastoma). When retinoblastoma is passed from parent to child, the disease is often bilateral. The mean age of diagnosis of unilateral retinoblastoma is 28 months while that for bilateral retinoblastoma is 8 months. With early detection and modern medical care, the survival rate for children with retinoblastoma is more than 95%. Ongoing research and new treatment developments are saving an increasing number of affected eyes from enucleation (removal), and are maximizing the visual outcome and quality of life for each affected child.
Genetic testing for this disease allows the monitoring of children known to carry a predisposing mutation, so that tumours can be detected and treated promptly. Conversely, it excludes children who are not carriers from frequent examinations. Additionally, the knowledge gained can be used by affected families in family planning, with pre-natal testing of carrier status being made possible. In some cases, preimplantation diagnosis may also be possible (http://www.uclcentreforpgd.org/). Adults who are aware of being carriers of disease susceptibility should also be vigilant in later life as they are prone to other types of cancer (e.g. lung, skin, breast and bone).
To find out more about the genetics of the disease, please click here.
For advice and guidance about detecting retinoblastoma in children, please click here.