Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

Abstract

Hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens.[1][1] Affected patients harbor heterozygous mutations within the iron