Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene

Ophthalmology

Volumn 107, Issue 7, 2000, Pages 1353-1357

  Dighiero, Paul ^a   Valleix, Sophie ^b   D'Hermies, François ^a   Drunat, Séverine ^b   Ellies, Pierre ^a   Savoldelli, Michèle ^a   Pouliquen, Yves ^a   Delpech, Marc ^b   Legeais, Jean Marc ^a   Renard, Gilles ^a  

^a HÔTEL DIEU   (France)

^b Groupe Hospitalier Cochin ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL ULTRASTRUCTURE; CLINICAL FEATURE; CORNEA DYSTROPHY; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT DISEASE; STROMA CELL; TRANSMISSION ELECTRON MICROSCOPY;

ADULT; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL TRANSPLANTATION; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MUTATION; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; TRANSFORMING GROWTH FACTOR BETA;

EID: 0033760760     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(00)00149-4     Document Type: Article

References (18)

1. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
2. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy
3. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
4. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations
5. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
6. A kerato-epithelin (Big-h3) mutation in lattice corneal dystrophy type IIIA
7. A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
8. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
9. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature
10. La dystrophie de Groenouw I dans sa forme superficielle diffuse
11. Mutation hot spots in 5q31-linked corneal dystrophies
12. Granular dystrophy of the cornea. Characteristic electron microscope lesion
13. Reis-Bucklers' corneal dystrophy. Immunofluorescent and electron microscopic studies
14. Anterior corneal dystrophies
15. Unusual superficial variant of granular dystrophy of the cornea
16. Superficial juvenile granular dystrophy
17. Corneal dystrophies and keratoconus
18. Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology