In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 26, No. 2-3 ( 2003-03), p. 229-244
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
0141-8955
,
1573-2665
DOI:
10.1023/A:1024493318913
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2003
ZDB Id:
2006875-X
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