The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

Br J Ophthalmol. 2000 Jul;84(7):697-700. doi: 10.1136/bjo.84.7.697.


Background/aim: 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.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Case-Control Studies
  • Cataract / blood
  • Cataract / genetics*
  • Cataract / pathology
  • Dogs
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Ferritins / biosynthesis
  • Ferritins / blood
  • Ferritins / genetics*
  • Humans
  • Infant
  • Lens, Crystalline / chemistry*
  • Microscopy, Electron
  • Middle Aged
  • Point Mutation / genetics
  • RNA, Messenger / genetics
  • Syndrome


  • RNA, Messenger
  • Ferritins