Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic syndrome (80 families detected worldwide until September 2009 [4]) which was first described, almost simultaneously in 1995, by Girelli and colleagues in Verona, Italy [5,6], and by Bonneau and collegues in Poitier, France [7,8]; it is caused by a mutation of the gene coding for ferritin L chain on chromosome 19 (19q13.1), involving the IRE sequence. The gene discussed is FTL; the disease is hereditary hyperferritinemia with congenital cataracts.