A new family with hereditary hyperferritinemia cataract syndrome

Genet Couns. 2013;24(4):393-7.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Cataract / blood
  • Cataract / congenital*
  • Cataract / genetics
  • Cataract / pathology
  • Child
  • Female
  • Ferritins / blood
  • Humans
  • Iron Metabolism Disorders / blood
  • Iron Metabolism Disorders / congenital*
  • Iron Metabolism Disorders / genetics
  • Iron Metabolism Disorders / pathology
  • Pedigree

Substances

  • Ferritins

Supplementary concepts

  • Hyperferritinemia, hereditary, with congenital cataracts