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...

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Veröffentlicht in:	British journal of ophthalmology 2000-07, Vol.84 (7), p.697-700
Hauptverfasser:	Mumford, Andrew D, Cree, Ian A, Arnold, Jayantha D, Hagan, Myles C, Rixon, Kenneth C, Harding, John J
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Animals Biological and medical sciences Case-Control Studies Cataract - blood Cataract - genetics Cataract - pathology Cataracts Dogs Enzyme-Linked Immunosorbent Assay Female Ferritins - biosynthesis Ferritins - blood Ferritins - genetics Genotype & phenotype Humans Infant Lens diseases Lens, Crystalline - chemistry Medical sciences Microscopy Microscopy, Electron Middle Aged Molecular weight Mutation Ophthalmology Original articles - Clinical science Phosphatase Point Mutation - genetics Proteins RNA, Messenger - genetics Syndrome
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Zusammenfassung:	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
ISSN:	0007-1161 1468-2079
DOI:	10.1136/bjo.84.7.697