A NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

Abstract

A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.