title: Lens changes in hereditary hyperferritinemia-cataract syndrome.
abstract: OBJECTIVE
  To provide detailed description and illustration of the lens changes found in hereditary hyperferritinemia-cataract syndrome, a newly reported autosomal dominant condition.
  
  
  METHODS
  Observational case reports. A 19-year-old man was referred for evaluation of possible hereditary hyperferritinemia-cataract syndrome. His serum ferritin level was increased at 1291 microg/L during a routine screening examination. Genetic analysis revealed mutation G51C on chromosome 19, predicting an altered iron response element in L-ferritin mRNA. Subsequent evaluation of his 46-year-old father revealed similar findings.
  
  
  RESULTS
  Multiple breadcrumb-like nuclear and cortical lens opacities were seen in this father-son pair. These cases represent the first detailed description and illustration of hereditary hyperferritinemia-cataract syndrome cataracts in the ophthalmic literature.
  
  
  CONCLUSIONS
  Hereditary hyperferritinemia-cataract syndrome can be associated with distinct breadcrumb-like lens opacities. Recognition of these characteristic cataracts may aid identification and study of patients with this unusual disorder and provide insight into mechanisms of cataract formation.
authors.affiliation: Baylor College of Medicine, Cullen Eye Institute, Houston, Texas, USA.
authors.forename: A
authors.initials: A
authors.lastname: Chang-Godinich
authors.forename: S
authors.initials: S
authors.lastname: Ades
authors.forename: D
authors.initials: D
authors.lastname: Schenkein
authors.forename: D
authors.initials: D
authors.lastname: Brooks
authors.forename: D
authors.initials: D
authors.lastname: Stambolian
authors.forename: M B
authors.initials: MB
authors.lastname: Raizman
mesh_terms: D000328:Adult; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005293:Ferritins / Q000097:blood* / Q000235:genetics; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics; D007908:Lens, Crystalline / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis; D013577:Syndrome; D014792:Visual Acuity
chemical_list: D012333:RNA, Messenger; D005293:Ferritins