title: The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin.
abstract: OBJECTIVE
  Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS.
  
  
  METHODS
  L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual.
  
  
  RESULTS
  The HHCS lens L-ferritin content was 147 microg/g dry weight of lens compared with <16 microg/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-L-ferritin but not anti-H-ferritin.
  
  
  CONCLUSIONS
  This unusual finding of crystalline opacities in the lens may be unique to HHCS and is likely to result from disturbed metabolism of L-ferritin within the lens or an abnormal interaction between L-ferritin and lens proteins.
authors.affiliation: Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN.
authors.forename: A D
authors.initials: AD
authors.lastname: Mumford
authors.forename: I A
authors.initials: IA
authors.lastname: Cree
authors.forename: J D
authors.initials: JD
authors.lastname: Arnold
authors.forename: M C
authors.initials: MC
authors.lastname: Hagan
authors.forename: K C
authors.initials: KC
authors.lastname: Rixon
authors.forename: J J
authors.initials: JJ
authors.lastname: Harding
mesh_terms: D000818:Animals; D016022:Case-Control Studies; D002386:Cataract / Q000097:blood / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005293:Ferritins / Q000096:biosynthesis / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D007908:Lens, Crystalline / Q000737:chemistry*; D008854:Microscopy, Electron; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D013577:Syndrome
chemical_list: D012333:RNA, Messenger; D005293:Ferritins