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Clinical Genetics of Retinoblastoma: An Asian Perspective

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Advances in Vision Research, Volume I

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Retinoblastoma is a cancer of the eye that affects children under the age of 5 years. Mutations in the RB1 gene cause retinoblastoma. Identification of the RB1 germline status of a patient allows differentiation between sporadic and heritable retinoblastoma variants. Application of this knowledge is crucial for assessing short-term (risk of additional tumors in the same eye and other eye) and long-term (risk of non-ocular malignant tumors) prognosis and offering cost-effective surveillance strategies. Accurate risk assessment and successful counseling allow families to consider reproductive options. Access to certified laboratories providing high-quality and reliable genetic testing for RB1 is limited in Asian countries.

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Author information

Authors and Affiliations

  1. Retinoblastoma Service, Narayana Nethralaya, Bengaluru, India

    Ashwin Mallipatna

  2. Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic Foundation, 2022 E 105th St, Cleveland, OH, 44106, USA

    Meghan Marino & Arun D. Singh

Authors
  1. Ashwin Mallipatna
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  2. Meghan Marino
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  3. Arun D. Singh
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Corresponding author

Correspondence to Arun D. Singh .

Editor information

Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

    Gyan Prakash

  2. Tokyo Medical Center, National Institute of Sensory Organs, Tokyo, Japan

    Takeshi Iwata

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Mallipatna, A., Marino, M., Singh, A.D. (2017). Clinical Genetics of Retinoblastoma: An Asian Perspective. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume I. Essentials in Ophthalmology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56511-6_17

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  • DOI: https://doi.org/10.1007/978-4-431-56511-6_17

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  • Publisher Name: Springer, Tokyo

  • Print ISBN: 978-4-431-56509-3

  • Online ISBN: 978-4-431-56511-6

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