Genetics of Retinoblastoma

Emily Edelman, Rubens N. Belfort, Evelyn X. Fu and Arun D. Singh

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics

Genetics of Retinoblastoma

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This chapter begins with an introduction to retinoblastoma, which covers incidence, presenting features, diagnosis and differential diagnosis, inheritance patterns, clinical classification and relationship to inheritance, treatment, classification, trials, and survival. The RB1 gene is then discussed at length, before hereditary retinoblastoma is explored, including clinical features, the 13q deletion syndrome, pineal tumors, retinocytoma, low-penetrance retinoblastoma, and second malignant neoplasms. Finally, the chapter covers genetic testing (indications and techniques), and genetic counseling.

Chapter.  8763 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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