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3 - Eye

Published online by Cambridge University Press:  20 August 2009

Shirley Hodgson
Affiliation:
St George's Hospital Medical School, London
William Foulkes
Affiliation:
McGill University, Montréal
Charis Eng
Affiliation:
Cleveland Clinic Foundation
Eamonn Maher
Affiliation:
University of Birmingham
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Summary

The ocular tumours discussed in this section include retinoblastoma, haemangioblastoma, optic nerve glioma, meningioma and melanoma. Ocular rhabdomyosarcoma is discussed with rhabdomyosarcoma of other sites on pages 136 and 137. Genetic disorders associated with significant ocular manifestations (neoplastic and non-neoplastic) include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), von Hippel–Lindau (VHL) disease, tuberose sclerosis and familial adenomatous polyposis (see Part Three).

Retinoblastoma

Retinoblastoma is the commonest malignant ocular tumour of childhood and affects 1 per 20 000 children. The tumour is derived from primitive retinal cells (retinoblasts) and usually presents in early childhood (90 per cent before the age of 5 years). Less than 10 per cent of children with retinoblastoma have a positive family history (where inheritance is autosomal dominant), but new mutations are frequent and approximately 40 per cent of retinoblastoma patients have a genetic predisposition. Retinoblastoma holds a unique place in human cancer genetics as the paradigm of the tumour suppressor gene.

Retinoblastoma typically presents as leukocoria (white eye, cat's eye reflex) or strabismus. It is bilateral in about 30 per cent of cases, and these children have a younger age at diagnosis (mean 8 months) than those with unilateral tumour (mean 25 months). Bilateral or multifocal tumours occur in patients with germline mutations of the retinoblastoma (RB1) gene, but about 15 per cent of children with a single tumour will have a germline mutation.

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Publisher: Cambridge University Press
Print publication year: 2006

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  • Eye
  • Shirley Hodgson, St George's Hospital Medical School, London, William Foulkes, McGill University, Montréal, Charis Eng, Cleveland Clinic Foundation, Eamonn Maher, University of Birmingham
  • Book: A Practical Guide to Human Cancer Genetics
  • Online publication: 20 August 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545832.005
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  • Eye
  • Shirley Hodgson, St George's Hospital Medical School, London, William Foulkes, McGill University, Montréal, Charis Eng, Cleveland Clinic Foundation, Eamonn Maher, University of Birmingham
  • Book: A Practical Guide to Human Cancer Genetics
  • Online publication: 20 August 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545832.005
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Eye
  • Shirley Hodgson, St George's Hospital Medical School, London, William Foulkes, McGill University, Montréal, Charis Eng, Cleveland Clinic Foundation, Eamonn Maher, University of Birmingham
  • Book: A Practical Guide to Human Cancer Genetics
  • Online publication: 20 August 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545832.005
Available formats
×