Brazilian family with hyperferritinemia-cataract syndrome: case report

Einstein (Sao Paulo). 2022 Oct 24:20:eRC0076. doi: 10.31744/einstein_journal/2022RC0076. eCollection 2022.


Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5' untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.

Publication types

  • Case Reports

MeSH terms

  • 5' Untranslated Regions
  • Apoferritins / genetics
  • Brazil
  • Cataract* / diagnosis
  • Cataract* / genetics
  • Hemochromatosis* / genetics
  • Humans
  • Iron
  • Pedigree


  • Apoferritins
  • 5' Untranslated Regions
  • Iron

Supplementary concepts

  • Hyperferritinemia, hereditary, with congenital cataracts