Retinoblastoma: signs, diagnosis, treatment and outlook

The NHS describes retinoblastoma as a rare type of eye cancer that can affect young children. It affects the retina, the light-sensitive lining at the back of the eye. The CCLG says it usually affects children under five, with about 40 to 50 cases diagnosed in the UK each year, and that it can affect one or both eyes.

The NHS says the main symptom is a white glow or white reflection in the centre of the eye (pupil). You may be able to see it just by looking at the eye, or you may see it in low light or in photos where a flash has been used. The CCLG calls this a white pupil that does not reflect light (leucocoria), and says it is often the first sign if there is no family history.

Other symptoms can include the following. The NHS says your child may otherwise seem well.

• the eyes pointing in different directions (squint)

• the coloured part of the eye (iris) changing colour

• swelling around the eye

• uncontrolled eye movements

• vision problems

• pain in one or both eyes

The NHS says to ask for an urgent GP or optician's appointment, or call NHS 111, if you notice a white glow or white reflection in the centre of your child's pupil (which you may notice in low lighting or in photos using a flash), or if your child's eye is swollen, they seem to have vision problems, a painful eye, or uncontrolled eye movements.

The GP or optician will check the back of your child's eyes using a light, like at an eye test. Your child may be referred straight to hospital or to a specialist eye doctor (ophthalmologist). The NHS says if your child is referred to a specialist, the appointment should happen within 2 weeks.

The NHS says a specialist will arrange tests to check for retinoblastoma. Young children may be given sedation or a general anaesthetic for some tests so that a specialist can examine the eyes closely. Results are given on the same day as the tests or after a few days.

The NHS says retinoblastoma can usually be successfully treated if found early. Treatment aims to get rid of the cancer, but there is a high chance your child may lose some or all of their vision in the affected eye. The treatment depends on the size of the cancer, whether it is in one or both eyes, whether it has spread, and your child's age and health. The CCLG says the aims are firstly to get rid of the cancer and secondly to keep as much sight as possible.

The NHS says retinoblastoma is often linked to a change in a gene that controls the growth of the eye, which means cells in the retina can grow uncontrollably. The changed gene may be passed to a child by their parents, or the gene may change as a child grows. It is not possible to prevent retinoblastoma.

The CCLG explains there are two forms. The heritable form, around half of all cases, is caused by an abnormal gene that is inherited from a parent or occurs for the first time at an early stage of development in the womb; tumours are often in both eyes. The non-heritable form is not passed on, and only one eye is affected. Genetic counselling and support is available for families.

The NHS says if your child has a close relative who has or had retinoblastoma, ask your GP or midwife about screening tests, which can be carried out from birth. The CCLG says children born into families with a history of retinoblastoma are offered blood testing for the abnormal gene, and those who have inherited it or are at risk are offered screening that usually starts shortly after birth and is repeated regularly, so that treatment can start early if a tumour develops.

The CCLG says treatment is very effective and nearly all (98 out of 100) children with retinoblastoma are cured. The NHS says your child may need several rounds of treatment, with appointments and tests in between to check how well it is working, and that the specialist team will give information about follow-up care. The CCLG notes your child will have further examinations under anaesthetic during and after treatment.

The CCLG says that if doctors suspect retinoblastoma, your child will be referred to one of the two specialist centres in the UK for confirmation of diagnosis and treatment. The NHS says a specialist retinoblastoma team at the hospital will support your child and your family, answer questions and suggest local services.

The NHS notes that it can be overwhelming to find out your child has cancer. The NHS lists the Childhood Eye Cancer Trust, the Children's Cancer and Leukaemia Group, Macmillan Cancer Support and Cancer Research UK as sources of information and support, and the specialist team can also point you to local services.

Retinoblastoma is treated through the NHS. Your child is seen first by a GP or optician, who can refer them urgently, and the CCLG says children with suspected retinoblastoma are referred to one of the two specialist centres in the UK for diagnosis and treatment.