Abstract
A patient with early bilateral nuclear cataracts and subsequent diagnosis of Fanconi-Bickel syndrome is described. Despite impaired galactose and glucose metabolism, cataracts have been reported in only few cases with this disorder. We conclude that Fanconi-Bickel syndrome should be considered in the differential diagnosis of neonatal cataracts. The pathogenesis of this complication has not been fully elucidated.
Original language | English |
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Pages (from-to) | 685 |
Number of pages | 1 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 29 |
Issue number | 5 |
Publication status | Published - Oct 2006 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Endocrinology