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Corneal Manifestations of Metabolic Disease

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

The optical clarity of the cornea permits visualization of subtle deposition of metabolites not possible in other tissues of the body. This chapter concentrates on disorders of metabolism that have clinically observable changes in the cornea that may help to establish or confirm a systemic diagnosis. Such disorders may indicate disturbances in aspects of metabolism involving amino acids, lipids, or complex carbohydrates. Most metabolic diseases are inherited in an autosomal recessive manner. Hunter’s syndrome and Fabry’s disease are two notable exceptions, both of which are X-linked. Generally, the metabolic disorder is a result of an enzymatic deficiency causing an accumulation of substrates either locally or after transport into the blood stream.

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Authors and Affiliations

  1. Cornea Service, Wills Eye Hospital, Philadelphia, PA, USA

    Zeba A. Syed, Beeran B. Meghpara, Kristin M. Hammersmith & Christopher J. Rapuano

  2. Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA

    Christopher J. Rapuano

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  1. Zeba A. Syed
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  2. Beeran B. Meghpara
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  3. Kristin M. Hammersmith
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  4. Christopher J. Rapuano
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Correspondence to Christopher J. Rapuano .

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, University of Illinois at Chicago, Chicago, IL, USA

    Dimitri T. Azar

  2. Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois, USA

    Mark I. Rosenblatt

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Syed, Z.A., Meghpara, B.B., Hammersmith, K.M., Rapuano, C.J. (2021). Corneal Manifestations of Metabolic Disease. 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_207-1

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