Retinoblastoma

Case contributed by A.Prof Frank Gaillard
CT

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Case Discussion

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.

Case courtesy of Dr Donna D'Souza

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Case information

rID: 9764
Case created: 21st May 2010
Last edited: 9th Apr 2016
System: Head & Neck
Tags: orbit, eye
Inclusion in quiz mode: Included

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