Hereditary Hyperferritinaemia-Cataract Syndrome Classical presentation for differential diagnosis

Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a genetic disease caused by the mutation in ferritin light –chain (FTL) gene and is of autosomal dominant inheritance. It presents with early onset of cataract and high serum ferritin. Cataracts are the predominant clinical abnormality in this syndrome. The excess of L-ferritin accumulates into the lens leading to cataracts. We report two families with the HHCS. Four members of the first family were affected and confirmed by DNA analysis to carry the mutation c.40A>G. In the second family two members were affected with HHCS, confirmed again by DNA analysis to carry the mutation of c.32G>T. These two mutations are both recognised as causative mutations in HHCS. We also report on the importance of recognizing this syndrome during the early stage of investigating patients with high serum ferritin levels to avoid potential mismanagement