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Assessment of Risk for Hereditary Retinoblastoma

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

Retinoblastoma is a childhood onset ocular cancer that is associated with significant risks of comorbidity including blindness and even death, if not diagnosed and treated early. Retinoblastoma is caused by mutations in the RB1 gene and can be a heritable or non-heritable disease. Heritable retinoblastoma is associated with risk of a second malignancy, especially in the context of radiation therapy. Historically, risk assessment for heritable retinoblastoma was based on whether the disease presented as unilateral or bilateral, in conjunction with the presence or absence of a family history of the condition. This information can also be used to evaluate the likelihood of affected siblings or future offspring of the affected individual. As genetic testing has become more available, one can now utilize information regarding RB1 mutation status of the affected individual to tailor risk assessments. In the majority of cases, the genetic test results will indicate whether the disease is heritable, mosaic, or non-heritable. There is a need for frequent eye examinations under anesthesia in mutation-positive children for early detection of any potential retinoblastoma or disease recurrence. It also means that for mutation-negative children these eye examinations can be decreased. In addition, RB1 mutation status can inform the risk for future second malignancies, as well as appropriate treatment approaches. Genetic testing for retinoblastoma should be accompanied by genetic counseling to educate the family regarding the results. In this chapter, we discuss the background of retinoblastoma, the hereditary nature of the disease, genetic testing strategies and methodologies, and counseling topics for families affected by retinoblastoma.

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Authors and Affiliations

  1. Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Arupa Ganguly, Rojeen Niazi & Elyse Ryan

Authors
  1. Arupa Ganguly
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  2. Rojeen Niazi
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  3. Elyse Ryan
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Corresponding author

Correspondence to Arupa Ganguly .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. Department of Ophthalmology, Scheie Eye Institute, University of Pennsylania, Philadelphia, USA

    Joan Marie O’Brien

  2. Department of Ophthalmology, Retina Service, Harvard Medical School; Massachusetts Eye and Ear Infirmary, Boston, MA, USA

    Evangelos S. Gragoudas

  3. The MD Anderson Cancer Center, Texas, USA

    Dan S. Gombos

  4. Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, USA

    Mary E. Aronow

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Ganguly, A., Niazi, R., Ryan, E. (2021). Assessment of Risk for Hereditary Retinoblastoma. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_265-1

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  • DOI: https://doi.org/10.1007/978-3-319-90495-5_265-1

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