Is retinoblastoma inherited?

An inherited RB1 change is present in the body’s cells and can affect both eyes or increase the chance of another retinoblastoma. It may be passed from a parent, or it may arise for the first time in a child and then be transmissible to future children. In a non-inherited pattern, the change is limited to tumour cells, so the family implications are different. A family history can help, but no known family history does not rule out an inherited change.

Ask the treating team for referral to a genetic counsellor and testing that can examine RB1. The result may guide eye examinations for siblings and other relatives, as well as future reproductive discussions. Children with a relevant family risk may need specialist eye surveillance from early life. Keep copies of pathology and genetic reports so relatives can receive accurate advice rather than relying on memory.

Arrange urgent eye assessment for a child with a white pupil reflection in photographs, a new eye turn, a painful or enlarged eye, reduced vision, or unusual redness. These signs have several possible causes, but retinoblastoma is time-sensitive and should be assessed by a paediatric eye specialist. Genetic counselling remains useful even when only one eye appears affected.

Ask whether the tumour pattern suggests inherited disease, which relative should be tested first, and what surveillance is recommended for children in the family. Discuss how results may affect treatment choices, including chemotherapy or local treatments such as brachytherapy.