A NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

Tuysuz G., Ozdemr N., Sonmez E., Kannengiesser C., Celkan T.

GENETIC COUNSELING, vol.24, no.4, pp.393-397, 2013 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 4
  • Publication Date: 2013
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.393-397
  • Istanbul University-Cerrahpasa Affiliated: No

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.