Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.

F. Furlan, R. Santer, E. Vismara, F. Santus, G. Sersale, F. Menni, R. Parini

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)685
Number of pages1
JournalJournal of Inherited Metabolic Disease
Volume29
Issue number5
Publication statusPublished - Oct 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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