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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Bibliographic Details
Published in:British journal of ophthalmology 2000-07, Vol.84 (7), p.697-700
Main Authors: Mumford, Andrew D, Cree, Ian A, Arnold, Jayantha D, Hagan, Myles C, Rixon, Kenneth C, Harding, John J
Format: Article
Language:English
Subjects:
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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Summary: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