title: The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes.
abstract: OBJECTIVE
  To analyze in vivo corneal morphology and ultrastructural features in patients with classic Ehlers-Danlos syndrome (EDS).
  
  
  METHODS
  Fifty patients with classic EDS and 50 age- and sex-matched control subjects were studied. A clinical evaluation was made with the Ocular Surface Disease Index (OSDI) questionnaire and a complete ophthalmic examination, including assessment of the best-corrected visual acuity and refraction, slit-lamp biomicroscopy, tear break-up time, intraocular pressure, Schirmer test without topical anesthesia, and corneal diameter. Scheimpflug camera topography and in vivo confocal microscopy (IVCM) were used to investigate corneal morphology and corneal ultrastructural features respectively.
  
  
  RESULTS
  Classic EDS patients, compared to controls, had thinner and steeper corneas (P < 0.001 and P < 0.05, respectively; independent samples t-test). IVCM showed thinner stromas, lower keratocyte densities (P < 0.001), increased applanation-related stromal folds (P < 0.001; Mann-Whitney U test), and increased endothelial hyperreflective dots (P < 0.05) in these patients. The study group also had increased symptoms (OSDI score: P < 0.01, independent samples t-test) and signs (tear break-up time and Schirmer test: P < 0.001 and P < 0.05, respectively) of tear film dysfunction.
  
  
  CONCLUSIONS
  Patients with classic EDS had macro- and microstructural changes of the cornea, which is a target tissue of the disease. These findings should be considered to optimize clinical management of these patients and to evaluate the opportunity of adding ocular findings to the classic EDS diagnostic criteria.
authors.affiliation: University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Villani
authors.forename: Elena
authors.initials: E
authors.lastname: Garoli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bassotti
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Magnani
authors.forename: Laura
authors.initials: L
authors.lastname: Tresoldi
authors.forename: Paolo
authors.initials: P
authors.lastname: Nucci
authors.forename: Roberto
authors.initials: R
authors.lastname: Ratiglia
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002452:Cell Count; D003316:Corneal Diseases / Q000175:diagnosis*; D060527:Corneal Keratocytes / Q000473:pathology*; D063171:Corneal Pachymetry; D003319:Corneal Stroma / Q000473:pathology*; D019781:Corneal Topography; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis*; D004728:Endothelium, Corneal / Q000473:pathology*; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D011795:Surveys and Questionnaires; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
keywords: Ehlers-Danlos syndrome; collagen V; confocal microscopy; connective tissue; cornea