einstein (São Paulo). 13/Oct/2022;20:eRC0076.
Brazilian family with hyperferritinemia-cataract syndrome: case report
DOI: 10.31744/einstein_journal/2022RC0076
ABSTRACT
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.
Keywords: Ferritins; Cataract; Hyperferritinemia; Mutation; Iron overload; Iron metabolism disorders
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