Abstract:Background: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by high serum ferritin levels and juvenile bilateral cataracts. It is often caused by mutations in the Iron Response Element (IRE) of the ferritin L-subunit (FTL) gene. Most of the mutations are point mutations located in the upper stem and the conserved hexanucleotide of the hairpin structure of IRE, only a few mutations are deletions. Case presentation: Here we report a 73-year-old woman who pres… Show more
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