title: A new family with hereditary hyperferritinemia cataract syndrome.
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.
authors.affiliation: Istanbul University, Cerrahpasa Medical Faculty, Pediatric Hematology Oncology Dept, Istanbul, Turkey. gulentuysuz@hotmail.com
authors.forename: G
authors.initials: G
authors.lastname: Tuysuz
authors.affiliation: Istanbul University, Cerrahpasa Medical Faculty, Pediatric Hematology Oncology Dept, Istanbul, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Ozdemir
authors.affiliation: Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Sonmez
authors.affiliation: INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon, CRB3, Université Paris Diderot, Site Bichat, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Kannengiesser
authors.affiliation: Istanbul University, Cerrahpasa Medical Faculty, Pediatric Hematology Oncology Dept, Istanbul, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Celkan
mesh_terms: D002386:Cataract / Q000097:blood / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010375:Pedigree
chemical_list: D005293:Ferritins