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Inborn Errors of Metabolism Affecting the Retina

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Pediatric Retina

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Abstract

An inborn error of metabolism is caused by a genetic inability to produce the full complement of a given functioning protein in its normal configuration. Although many of these disorders are rare, they often produce devastating ocular manifestations. Because of the severity and the high incidence of these ocular manifestations, the ophthalmologist is often involved in the care of these patients. In addition, the ophthalmologist is often asked to play an early role in order to detect subtle, early, and occasionally pathognomonic lesions to aid in the diagnosis of these rare disorders. This chapter will discuss those inborn errors of metabolism that may have an effect on both retinal function and appearance.

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Acknowledgement

Photographs courtesy of Richard Alan Lewis, M.D., M.S.

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Authors and Affiliations

  1. Children’s Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO, 64108, USA

    Scott E. Olitsky

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  1. Scott E. Olitsky
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Correspondence to Scott E. Olitsky .

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Editors and Affiliations

  1. Ross Eye Inst., State University of New York, Buffalo, Main Street 1176, Buffalo, 14209, New York, USA

    James Reynolds

  2. Children's Mercy Hospital, Gillham St. 2401, Kansas City, 64108, Missouri, USA

    Scott Olitsky

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Olitsky, S.E. (2011). Inborn Errors of Metabolism Affecting the Retina. In: Reynolds, J., Olitsky, S. (eds) Pediatric Retina. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-12041-1_6

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  • DOI: https://doi.org/10.1007/978-3-642-12041-1_6

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-12040-4

  • Online ISBN: 978-3-642-12041-1

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