This cancer develops in the retina due to a faulty RB1 gene. There are two types of retinoblastoma, sporadic and heritable. In sporadic retinoblastoma, the faulty RB1 gene is present only in tumour cells. The retinoblastoma tumour usually only affects one eye and is often diagnosed at 24 months of age. Children with sporadic retinoblastoma are usually not at risk to pass down the disease to their children.
In heritable retinoblastoma, the faulty RB1 gene is present in all cells of the body. The retinoblastoma tumour usually develops in both eyes (although 15% may only have one eye affected) and is usually diagnosed earlier at 12 months of age. Children with heritable retinoblastoma have a lifetime risk of developing other cancers/tumours, and also passing down the condition to their future children.
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