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

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 mu g/g dry weight of lens compared with <16 mu g/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-l-ferritin but not anti-L-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.