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The eye as a window to inborn errors of metabolism

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Journal of Inherited Metabolic Disease

Abstract

Summary: Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to attribute the eye symptoms to a single hereditary pathogenetic mechanism. More often the aetiological relationship of the ocular defects to the metabolic disease is unknown. Diverse pathogenetic mechanisms may act via a common pathological pathway inducing ocular damage. The occurrence of eye abnormalities in metabolic disorders suggests that they are associated with direct toxic actions, errors of synthetic pathways or deficient energy metabolism. In this review, metabolic disorders with major abnormalities in the cornea, lens, retina and optic nerve are presented. In all cases, an appropriate combined approach by the ophthalmologist, paediatrician/neurologist, geneticist and clinical biochemist is the only way to diagnostic success.

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Authors and Affiliations

  1. Department of Pediatrics/Emma Children's, Hospital and Laboratory of Genetic Metabolic Diseases, Netherland

    B. T. Poll-The, P. G. Barth & M. Duran

  2. Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands

    L. J. Maillette De Buy Wenniger-Prick

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  1. B. T. Poll-The
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  2. L. J. Maillette De Buy Wenniger-Prick
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  3. P. G. Barth
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  4. M. Duran
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Correspondence to B. T. Poll-The.

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Poll-The, B.T., Maillette De Buy Wenniger-Prick, L.J., Barth, P.G. et al. The eye as a window to inborn errors of metabolism. J Inherit Metab Dis 26, 229–244 (2003). https://doi.org/10.1023/A:1024493318913

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