Hyperferritinemia-cataract syndrome, characterized by high serum ferritin concentration and cataracts in early life, remains a less-known rare disease, with fewer than 100 families reported worldwide. Though benign, high ferritin levels frequently result in misdiagnosis with iron storage disease, and patients can be exposed to unnecessary, even invasive, evaluation and treatment procedures. The presence of cataract together with isolated serum ferritin elevation should alert clinicians to consider this syndrome. We herein present a new family with hyperferritinemia-cataract syndrome to increase clinical awareness.
Keywords: FTL gene; Turkish family; c-160A > G (40A > G) mutation; hyperferritinemia-cataract syndrome.