Franceschetti hereditary recurrent corneal erosion.

Détails

ID Serval
serval:BIB_D27411243EA4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Franceschetti hereditary recurrent corneal erosion.
Périodique
American Journal of Ophthalmology
Auteur(s)
Lisch W., Bron A.J., Munier F.L., Schorderet D.F., Tiab L., Lange C., Saikia P., Reinhard T., Weiss J.S., Gundlach E., Pleyer U., Lisch C., Auw-Haedrich C.
ISSN
1879-1891 (Electronic)
ISSN-L
0002-9394
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
153
Numéro
6
Pages
1073-81.e4
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. Involved in design and conduct of study (W.L., A.J.B., F.M., D.F.S., L.T., P.S., J.S.W., C.A.-H.); collection of data (W.L., C.L., P.S., D.F.S., L.T., E.G., U.P., Ch.L., C.A.-H.); management, analysis, and interpretation of data (W.L., A.J.B., F.M., D.F.S., L.T., T.R., C.A.-H.); and preparation, review, and approval of the manuscript (W.L., A.J.B., F.M., D.F.S., L.T., P.S., J.S.W., Ch.L., C.A.-H.).
Résumé
PURPOSE: To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.
DESIGN: Observational case series.
METHODS: Slit-lamp examination of 10 affected individuals was conducted. Biomicroscopic examinations were supplemented by peripheral corneal biopsy in 1 affected patient with corneal haze. Tissue was processed for light and electron microscopy and immunohistochemistry was performed. DNA analysis was carried out in 12 affected and 3 nonaffected family members.
RESULTS: All affected individuals suffered from severe ocular pain in the first decade of life, attributable to recurrent corneal erosions. Six adult patients developed bilateral diffuse subepithelial opacifications in the central and paracentral cornea. The remaining 4 affected individuals had clear corneas in the pain-free stage of the disorder. Histologic and immunohistochemical examination of the peripheral cornea in a single patient showed a subepithelial, avascular pannus. There was negative staining with Congo red. DNA analysis excluded mutations in the transforming growth factor beta-induced (TGFBI) gene and in the tumor-associated calcium signal transducer 2 (TACSTD2) gene.
CONCLUSION: We have extended the pedigree of Franceschetti corneal dystrophy and elaborated its natural history on the basis of clinical examinations. A distinctive feature is the appearance of subepithelial opacities in adult life, accompanied by a decreased frequency of recurrent erosion attacks. Its clinical features appear to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported in the literature.
Mots-clé
Adult, Aged, Aged, 80 and over, Antigens, Neoplasm/genetics, Biological Markers/metabolism, Biopsy, Cadherins/metabolism, Cell Adhesion Molecules/genetics, Child, Chondroitin/metabolism, Claudins/metabolism, Corneal Dystrophies, Hereditary/complications, Corneal Dystrophies, Hereditary/genetics, Corneal Opacity/etiology, DNA Mutational Analysis, Decorin/metabolism, Dermatan Sulfate/metabolism, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/metabolism, Eye Pain/etiology, Female, Humans, Immunohistochemistry, Male, Pedigree, Recurrence, Transforming Growth Factor beta/genetics, Transforming Growth Factor beta/metabolism
Pubmed
Web of science
Création de la notice
03/09/2012 8:17
Dernière modification de la notice
20/08/2019 15:52
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