title: First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.
abstract: OBJECTIVE
  To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD).
  
  
  METHODS
  A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with diurnal visual fluctuations. He underwent corneal biomicroscopy, Scheimpflug tomography, in vivo HRT confocal laser scanning microscopy and genetic testing for TGFBI and ZEB1 mutations using direct DNA sequencing.
  
  
  RESULTS
  Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium showed a bilateral flecked appearance, and the posterior corneal curvature suggested a possible concomitant ectatic disorder. Corneal tomography confirmed the presence of a stage II KC in both eyes. In vivo confocal laser scanning microscopy revealed a concomitant bilateral EBMCD with hyperreflective deposits in basal epithelial cells, subbasal Bowman's layer microfolds and ridges with truncated subbasal nerves as pseudodendritic elements. Stromal analysis revealed honeycomb edematous areas, and the endothelium showed a strawberry surface configuration typical of FECD. The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1.
  
  
  CONCLUSIONS
  This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation. The triple association was previously established by means of morphological analysis of the cornea using corneal Scheimpflug tomography and in vivo HRT II confocal laser scanning microscopy.
authors.affiliation: Department of Ophthalmology, University of Siena, Siena, Italy.
authors.forename: Cosimo
authors.initials: C
authors.lastname: Mazzotta
authors.affiliation: Department of Ophthalmology, University of Siena, Siena, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Traversi
authors.affiliation: Department of Ophthalmology, Technical University of Dresden, Dresden, Germany.
authors.forename: Frederik
authors.initials: F
authors.lastname: Raiskup
authors.affiliation: Medical Genetics, University of Siena, Siena, Italy.
authors.forename: Caterina Lo
authors.initials: CL
authors.lastname: Rizzo
authors.affiliation: Medical Genetics, University of Siena, Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
keywords: Cogan dystrophy; Confocal microscopy; Epithelial basement membrane dystrophy; Fuchs’ endothelial corneal dystrophy; Keratoconus; ZEB1