Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

Arne Kröger, Esther B Bachli, Andrew Mumford, Christoph Gubler

Research output: Contribution to journalArticle (Academic Journal)peer-review

4 Citations (Scopus)

Abstract

Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL).
Original languageEnglish
Pages (from-to)471
JournalJournal of Medical Case Reports
Volume5
DOIs
Publication statusPublished - 2011

Fingerprint Dive into the research topics of 'Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series'. Together they form a unique fingerprint.

Cite this