title: Dystrophia Helsinglandica--corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes.
abstract: OBJECTIVE
  The aim of this study was to describe the morphology, corneal topography and sensitivity in individuals with Dystrophia Helsinglandica. This autosomal dominant corneal disease is characterized by recurrent corneal erosive episodes and progressive subepithelial fibrosis not significantly affecting visual acuity.
  
  
  METHODS
  The corneas of nine affected and nine unaffected individuals were examined using slit-lamp biomicroscopy, in vivo confocal microscopy (IVCM) and videokeratography. Corneal mechanical sensitivity was also measured using a non-contact esthesiometer.
  
  
  RESULTS
  Slit-lamp biomicroscopy revealed that the affected individuals represented different stages of corneal changes, from a nearly normal cornea to subepithelial fibrosis of the central cornea. Corneal changes in affected individuals did not significantly decrease the best spectacle-corrected visual acuity. In vivo confocal microscopy detected morphological changes in the epithelium and stroma. Subepithelial opacity formation including altered keratocytes could be found in the anterior stroma in all affected eyes. With the exception of two eyes (one affected and one unaffected), all videokeratographies showed irregular astigmatism. Corneal sensitivity was significantly lower in affected individuals (p = 0.01). Age and corneal sensitivity showed no correlation.
  
  
  CONCLUSIONS
  The main morphological findings in affected individuals were discrete and progressive subepithelial fibrosis, in the in vivo confocal microscope corresponding to optically dense extracellular matrix and activated keratocytes. Subbasal nerve morphology was changed in the affected family members who also showed a decreased corneal sensitivity. The findings are per se not specific to the disease. The changes probably reflect a healing response to erosive events on the corneal surface influenced by the genotype.
authors.affiliation: Department of Ophthalmology, University of Helsinki, Helsinki, Finland.
authors.forename: Waldir
authors.initials: W
authors.lastname: Neira
authors.forename: Björn
authors.initials: B
authors.lastname: Hammar
authors.forename: Juha M
authors.initials: JM
authors.lastname: Holopainen
authors.forename: Ilpo
authors.initials: I
authors.lastname: Tuisku
authors.forename: Anette
authors.initials: A
authors.lastname: Dellby
authors.forename: Timo
authors.initials: T
authors.lastname: Tervo
authors.forename: Per
authors.initials: P
authors.lastname: Fagerholm
mesh_terms: D000328:Adult; D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000473:pathology*; D019781:Corneal Topography; D018450:Disease Progression; D019573:Epithelium, Corneal / Q000473:pathology; D005260:Female; D005355:Fibrosis / Q000473:pathology; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D012008:Recurrence; D012680:Sensitivity and Specificity; D014792:Visual Acuity; D055815:Young Adult