[Hereditary syndrome of hyperferritinemia and cataract].
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.
Andonegui
J
J
Servicio de oftalmología, Hospital de Navarra, Pamplona.
Prat
M
M
Vargas
M
M
D000328:Adult; D002386:Cataract / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000378:metabolism*; D006801:Humans; D007223:Infant; D019189:Iron Metabolism Disorders / Q000097:blood / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
D005293:Ferritins