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. 2000 Jul;84(7):697–700. doi: 10.1136/bjo.84.7.697

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

A Mumford 1, I Cree 1, J Arnold 1, M Hagan 1, K Rixon 1, J Harding 1
PMCID: PMC1723562  PMID: 10873976

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.



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Figure 1  .

Figure 1  

Slit lamp appearance of the lens from the proband. The cataract is visible as a central sutural opacity within the lens with additional cortical opacities visible extending radially. In the adults, the cortical opacities were more prominent near the lens equator but extending axially with increasing age. No other ocular abnormalities were demonstrated. The sequence of sutural opacities followed by radiating cortical opacity was reminiscent of the appearance of cataracts developing in diabetic rats.8

Figure 2  .

Figure 2  

(A) Light microscopic appearance of crystalline inclusions within the lens stroma showing dense staining with monoclonal anti-L-ferritin (×400). Staining was absent from the lens stroma itself. (B) The deposits were not stained with anti-H-ferritin (×400). (C) Appearance of inclusions at ×50 000 magnification showing square-shaped crystal morphology. The crystals were not associated with any cellular elements, but appeared to lie free within the stroma.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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