Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder

In three young patients who presented with bilateral cataracts the cause proved to be an inherited metabolic disease. The first patient was a newborn aged 7 weeks, in whom galactokinase deficiency was diagnosed. The second patient was a boy aged 8 years with cerebrotendinous xanthomatosis. The third...

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Bibliographic Details

Published in:	Nederlands tijdschrift voor geneeskunde Vol. 152; no. 11; p. 632
Main Authors:	Wijburg, M T, Wenniger-Prick, L J Maillette de Buy, Bosch, A M, Visser, G, Bams-Mengerink, A
Format:	Journal Article
Language:	Dutch
Published:	Netherlands 15-03-2008
Subjects:	Cataract - etiology Cataract - prevention & control Child Chondrodysplasia Punctata, Rhizomelic - complications Chondrodysplasia Punctata, Rhizomelic - diagnosis Female Galactosemias - complications Galactosemias - diagnosis Genetic Counseling Humans Infant Male Xanthomatosis - complications Xanthomatosis - diagnosis
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