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The Phakomatoses

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Practical Management of Pediatric Ocular Disorders and Strabismus

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Abstract

The phakomatoses are a heterogeneous group of hereditary disorders in which loss of function of a tumor-suppressor gene leads to tumor formation of the skin, central nervous system, viscera, and eyes. Patients may initially present with ocular manifestations, and accurate diagnosis and expeditious referral for systemic evaluation are paramount, and in some cases, life saving. This chapter discusses the ophthalmologic manifestations of neurofibromatosis 1 and 2, tuberous sclerosis complex, von Hippel-Lindau disease, and familial adenomatous polyposis (Gardner syndrome).

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Acknowledgements

Grant Liu, MD, and Robert Sisk, MD, for review of sections of this chapter.

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Authors and Affiliations

  1. Abrahamson Pediatric Eye Institute, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave, MLC 4008, Cincinnati, OH, 45229-3039, USA

    Virginia Miraldi Utz MD

  2. Department of Ophthalmology, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4008, Cincinnati, OH, 45229-3039, USA

    Virginia Miraldi Utz MD

  3. The Cole Eye Institute, Cleveland Clinic, i32, 9500 Euclid Avenue, Cleveland, OH, 44195, USA

    Elias I. Traboulsi MD, MEd

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  1. Virginia Miraldi Utz MD
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  2. Elias I. Traboulsi MD, MEd
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Correspondence to Virginia Miraldi Utz MD .

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Editors and Affiliations

  1. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA

    Elias Traboulsi

  2. Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital, Cincinnati, Ohio, USA

    Virginia Utz

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Miraldi Utz, V., Traboulsi, E.I. (2016). The Phakomatoses. In: Traboulsi, E., Utz, V. (eds) Practical Management of Pediatric Ocular Disorders and Strabismus. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2745-6_36

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  • DOI: https://doi.org/10.1007/978-1-4939-2745-6_36

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