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Retinoblastoma is a malignant primitive neuroectodermal tumour (PNET) arising in the retina. It is the commonest intraocular tumour of childhood; the average age at presentation is 18 months. CT demonstrates a contrast-enhancing retrolental mass that is usually calcified. A dense vitreous due to haemorrhage is common. 40% are bilateral and these are often synchronous. Direct spread may occur into the orbit or occur along the optic nerve into the brain.
Distant metastases are less common. Approximately 60% of cases are sporadic and 40% are inherited, the latter usually due to a germline mutation in the RB tumour suppressor gene. Children with this mutation are at increased risk of developing “trilateral retinoblastoma” (bilateral retinoblastomas and pineoblastoma) and osteosarcoma.
1. Dahnert W. Radiology Review Manual, 5th edition. Lippincott, Williams and Wilkins 2003
2. Kumar V. et al Robbins and Cotran Pathologic Basis of Disease, 7th edition, Elsevier Saunders 2005
Credit: Dr Donna D'Souza

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