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Original Article
The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin
  1. Andrew D Mumforda,
  2. Ian A Creeb,
  3. Jayantha D Arnoldc,
  4. Myles C Hagand,
  5. Kenneth C Rixone,
  6. John J Hardinge
  1. aHaemostasis Research Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, bDepartment of Pathology, Institute of Ophthalmology, University College London, Bath Street, London, EC1V 9EL, cDepartment of Gastroenterology, Ealing Hospital, Uxbridge Road, Middlesex, UB1 3HW, dDepartment of Ophthalmology, Ashford Hospital, London Road, Middlesex, TW15 3AN, eNuffield Laboratory of Ophthalmology, Walton Street, Oxford OX2 6AW
  1. Professor J J Harding, Nuffield Laboratory of Ophthalmology, Walton Street, Oxford OX2 6AWjohn.harding{at}ophthalmology.oxford.ac.uk

Abstract

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 μg/g dry weight of lens compared with <16 μg/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.

https://doi.org/10.1136/bjo.84.7.697

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