Anales del Sistema Sanitario de Navarra
versión impresa ISSN 1137-6627
This report describes a family with hereditary hyperferritinemia cataract syndrome. Inheritance is autosomal dominant and clinical characteristics of this syndrome are familial cataracts of early development and elevated serum ferritin levels but otherwise normal iron studies and haematological parameters. It is important to increase awareness of this entity in order to diagnose new cases and avoid unnecessary diagnostic tests and inadequate treatments.
Palabras clave : Hereditary syndrome; Hyperferritinemia; Cataract.