FTL and hereditary hyperferritinemia with congenital cataracts: Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder caused by pathogenic variants in the iron-responsive element (IRE) of the 5' untranslated region (5'UTR) of the FTL gene, resulting in dysregulated ferritin synthesis independent of body iron stores.