Hereditary hyperferritinemia - Cataract syndrome;Syndrome héréditaire d'hyperferritinémie et cataracte

Journal Francais d'Ophtalmologie

Volumn 24, Issue 8, 2001, Pages 847-850

  Feys, J ^a   Nodarian, M ^a   Aygalenq, P ^a   Cattan, D ^a   Salvanet Bouccara, A ^a   Beaumont, C ^b  

^a CHI   (France)

^b INSERM   (France)

Author keywords

Autosomal dominant; Cataract; Ferritin

Indexed keywords

FERRITIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CHILD; FEMALE; GENE DELETION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; IRON STORAGE; MALE; VISUAL ACUITY;

ADULT; CATARACT; CHILD; CHILD, PRESCHOOL; FEMALE; FERRITINS; HUMANS; IRON METABOLISM DISORDERS; MALE; PEDIGREE; SYNDROME;

EID: 0034751507     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract
2. Bilateral cataract and high serum ferritin: A new dominant genetic disorder?
3. Génétique moléculaire du syndrome héréditaire cataracte-hyperferritinémie
4. Molecular basis of the recently described hereditary hyperferrinemia - Cataract syndrome: A mutation in the iron-responsive element of ferritin L-Subunit Gene (the "Verona Mutation")
5. Hereditary hyperferritinaemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene
6. Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
7. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
8. A point mutation in the bulge of the iron-responsive element of the L ferritine gene in two families with the hereditary hyperferritinaemia-cataract syndrome
9. Hyperferritinaemia in the absence of iron overload
10. The lens in hereditary hyperferritinaemia cataract sydrome contains crystalline deposits of L-ferritin
11. Analysis of ferritin in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome