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Genetics of Retinoblastoma

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Ocular Tumors

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Abstract

Retinoblastoma is the most common intraocular malignancy in children worldwide with a distinct pattern of inheritance. Gradually, as we are learning more and more about its genetic basis and involvement of novel mutations, our understanding regarding the treatment and prognostication is getting modified. This chapter entails the current understanding regarding the genetics of retinoblastoma including the type of inheritance, molecular genetics, genetic variations, genetic testing and the role of preimplantation and prenatal diagnosis in proper counselling of the families.

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Authors and Affiliations

  1. Department of Ocular Oncology and Vitreoretina, Sri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India

    Smriti Jain

  2. Department of Vitreoretina and Ocular Oncology, Sri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India

    Vikas Khetan

Authors
  1. Smriti Jain
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  2. Vikas Khetan
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Correspondence to Vikas Khetan .

Editor information

Editors and Affiliations

  1. Former Professor and Head, Department of Ophthalmology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India

    H. V. Nema

  2. Professor, Department of Ophthalmology, Sri Aurobindo Medical College & PG Institute, Indore, India

    Nitin Nema

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Jain, S., Khetan, V. (2021). Genetics of Retinoblastoma. In: Nema, H.V., Nema, N. (eds) Ocular Tumors. Springer, Singapore. https://doi.org/10.1007/978-981-15-8384-1_3

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  • DOI: https://doi.org/10.1007/978-981-15-8384-1_3

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-15-8383-4

  • Online ISBN: 978-981-15-8384-1

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