Description of a New Mutation in the L-Ferritin Iron-Responsive Element Associated With Hereditary Hyperferritinemia-Cataract Syndrome in a Spanish Family

Abstract

To the Editor: The hereditary hyperferritinemia cataract syndrome (HHCS) is characterized by an elevated serum ferritin level without iron overload, and autosomal dominant congenital bilateral cataract. In 1995, Girelli et al[1][1] identified a first mutation in the 5′ untranslated region of the