title: The eye as a window to inborn errors of metabolism.
abstract: 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.
authors.affiliation: Department of Pediatrics/Emma Children's Hospital and Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: L J
authors.initials: LJ
authors.lastname: Maillette de Buy Wenniger-Prick
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: M
authors.initials: M
authors.lastname: Duran
mesh_terms: D000818:Animals; D002386:Cataract / Q000209:etiology; D003316:Corneal Diseases / Q000209:etiology; D005128:Eye Diseases / Q000209:etiology*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009901:Optic Nerve Diseases; D012162:Retinal Degeneration