title: Franceschetti hereditary recurrent corneal erosion.
abstract: OBJECTIVE
  To describe new affected individuals of Franceschetti's original pedigree of hereditary recurrent erosion and to classify a unique entity called Franceschetti corneal dystrophy.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany. prof.dr.lisch@augenklinik-hanau.de
authors.forename: Walter
authors.initials: W
authors.lastname: Lisch
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bron
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: Leila
authors.initials: L
authors.lastname: Tiab
authors.forename: Clemens
authors.initials: C
authors.lastname: Lange
authors.forename: Parykshit
authors.initials: P
authors.lastname: Saikia
authors.forename: Thomas
authors.initials: T
authors.lastname: Reinhard
authors.forename: Jayne S
authors.initials: JS
authors.lastname: Weiss
authors.forename: Enken
authors.initials: E
authors.lastname: Gundlach
authors.forename: Uwe
authors.initials: U
authors.lastname: Pleyer
authors.forename: Christina
authors.initials: C
authors.lastname: Lisch
authors.forename: Claudia
authors.initials: C
authors.lastname: Auw-Haedrich
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics; D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D015820:Cadherins / Q000378:metabolism; D015815:Cell Adhesion Molecules / Q000235:genetics; D002648:Child; D002807:Chondroitin / Q000378:metabolism; D057167:Claudins / Q000378:metabolism; D003317:Corneal Dystrophies, Hereditary / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D003318:Corneal Opacity / Q000209:etiology; D004252:DNA Mutational Analysis; D058575:Decorin / Q000378:metabolism; D003871:Dermatan Sulfate / Q000378:metabolism; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000378:metabolism; D058447:Eye Pain / Q000209:etiology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D010375:Pedigree; D012008:Recurrence; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism; D000099222:betaIG-H3 Protein
chemical_list: D000951:Antigens, Neoplasm; D015415:Biomarkers; D015820:Cadherins; D015815:Cell Adhesion Molecules; D002807:Chondroitin; D057167:Claudins; D058575:Decorin; D003871:Dermatan Sulfate; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein; C473255:CLDN7 protein, human; C499380:TACSTD2 protein, human