Retinoblastoma

Retinoblastoma accounts for about 5% of cases of severe visual impairment in children. The mean age of presentation is 18 months of age. A significant proportion of cases are inherited. The suspected gene is located on chromosome 13 and the mode of inheritance is dominant. Children in families that suffer from the hereditary form should undergo regular screening. They are commonly have bilateral disease. The commonest presentation is a white pupillary reflex or strabismus. Treatment is with chemotherapy to shrink the tumour, followed by laser therapy to the retina to preserve vision. Although most patients are cured, many suffered from impaired vision. There is a significant risk of secondary malignancy in survivors, especially sarcoma.