Premium
The eye as a window to inborn errors of metabolism
Author(s) -
PollThe B. T.,
Maillette De Buy WennigerPrick L. J.,
Barth P. G.,
Duran M.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1024493318913
Subject(s) - geneticist , metabolic disease , medicine , pathological , cornea , etiology , disease , mechanism (biology) , cataracts , cystinosis , eye disease , ophthalmology , bioinformatics , optometry , pathology , biology , genetics , endocrinology , philosophy , cystine , biochemistry , epistemology , cysteine , enzyme
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.