Hereditary hyperferritinaemia cataract syndrome

The Lancet

Volumn 383, Issue 9927, 2014, Pages 1520-

  Bowes, Oliver ^a   Baxter, Kim ^a   Elsey, Terry ^a   Snead, Martin ^a   Cox, Timothy ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; TRANSFERRIN;

5' UNTRANSLATED REGION; ADULT; CASE REPORT; CATARACT; CATARACT EXTRACTION; ERYTHEMA; FATIGUE; FERRITIN BLOOD LEVEL; FOLLOW UP; GENE LOCUS; GENETIC DISORDER; GLARE; HEMOCHROMATOSIS; HEPATOBILIARY RADIOGRAPHY; HEPATOMEGALY; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HUMAN; HYPERFERRITINEMIA; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; LIGHT; LIVER FUNCTION; MALE; NOTE; PHLEBOTOMY; POINT MUTATION; PRIORITY JOURNAL; SLIT LAMP; VISUAL DISORDER; CLINICAL EXAMINATION; HEREDITARY HYPERFERRITINAEMIA CATARACT SYNDROME; HFE GENE; NOCTURNAL GLARE; WILD TYPE;

ADULT; CATARACT; DIAGNOSIS, DIFFERENTIAL; FERRITINS; HUMANS; IRON METABOLISM DISORDERS; MALE;

EID: 84899516356     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(14)60484-0     Document Type: Article

References (3)

1. Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G., Cazzola M. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90: 931-34.
2. Luscieti S, Tolle G, Aranda J., et al Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet J Rare Dis 2013; 8: 30.
3. Levi S, Girelli D, Perrone F., et al Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinaemia cataract syndrome. Blood 1998; 91: 4180-87.