title: Reis-Bücklers corneal dystrophy: a reappraisal using in vivo and ex vivo imaging techniques.
abstract: OBJECTIVE
  To characterize the phenotype of Reis-Bücklers corneal dystrophy (RBCD) using in vivo and ex vivo imaging techniques.
  
  
  METHODS
  Five RBCD patients with penetrating keratoplasty (PK) were enrolled. Before surgery, all patients underwent a complete ophthalmological examination including slitlamp biomicroscopy, in vivo confocal microscopy (IVCM) and anterior segment (AS) optical coherence tomography (OCT). After PK, corneal buttons were examined by light and transmission electron microscopy (TEM). Correlations between in vivo and ex vivo images were analyzed.
  
  
  RESULTS
  In all cases, irregular geographic-like subepithelial gray-white opacities were observed in the central and mid-peripheral cornea. AS-OCT images of the cornea of all patients revealed hyperreflective homogeneous and continuous deposits concentrated at the level of Bowman's layer and anterior stroma. Using IVCM, a highly reflective irregular amorphous material was observed from intermediate epithelial cells to the anterior stroma. Sparse deposits of highly reflective material were also detected in the posterior stroma. TEM showed in all specimens basal epithelial cells containing small vesicles with rod-shaped dense material.
  
  
  CONCLUSIONS
  IVCM and AS-OCT may be a useful adjunct to biomicroscopy for the diagnosis and management of RBCD. The correlations between the different in vivo and ex vivo imaging techniques emphasize the hypothesis of an epithelial origin for RBCD.
authors.affiliation: Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors.forename: Qingfeng
authors.initials: Q
authors.lastname: Liang
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Pan
authors.forename: Xuguang
authors.initials: X
authors.lastname: Sun
authors.forename: Christophe
authors.initials: C
authors.lastname: Baudouin
authors.forename: Antoine
authors.initials: A
authors.lastname: Labbé
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D008853:Microscopy; D018613:Microscopy, Confocal; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D041623:Tomography, Optical Coherence; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein