title: Pathologic epithelial and anterior corneal nerve morphology in early-stage congenital aniridic keratopathy.
abstract: OBJECTIVE
  To document the clinical and morphologic corneal findings in the early stages of congenital aniridic keratopathy in Swedish families.
  
  
  METHODS
  Prospective, observational, comparative case series.
  
  
  METHODS
  A total of 16 eyes of 16 subjects with congenital aniridic keratopathy and a clear central cornea, and 6 eyes from 6 healthy controls (unaffected relatives). Nine of the 16 eyes with aniridia came from 5 families with a documented familial history of aniridia.
  
  
  METHODS
  Detailed ophthalmic examinations included best spectacle-corrected visual acuity (BSCVA), tear film production, tear break-up time (BUT), corneal touch sensitivity, intraocular pressure measurement, ultrasound pachymetry, slit-lamp biomicroscopy, and laser scanning in vivo confocal microscopy (IVCM).
  
  
  METHODS
  Confirmed stage of aniridic keratopathy, clinical parameters of cornea and tear film (visual acuity, sensitivity, corneal thickness, tear production, and BUT), and the morphologic status of corneal epithelium, sub-basal nerves, and limbal palisades of Vogt.
  
  
  RESULTS
  In early-stage aniridic keratopathy, BSCVA and tear BUT were reduced relative to controls (P < 0.001 for both), and corneal thickness was increased (P=0.01). Inflammatory dendritic cells were present in the central epithelium in aniridia, with significantly increased density relative to controls (P = 0.001). Discrete focal opacities in the basal epithelial region were present in 5 of 11 aniridia cases with an otherwise clear cornea. Opacities were associated with dendritic cells and harbored structures presumed to be goblet cells. Sub-basal nerves were extremely dense in 3 aniridia cases, and a prominent whorl pattern of nerves and epithelial cells was observed in 1 case. Normal limbal palisade morphology was absent in aniridia but present in controls.
  
  
  CONCLUSIONS
  Early-stage aniridic keratopathy is characterized by the development of focal opacities in the basal epithelium, altered sub-basal nerves, infiltration of the central epithelium by dendritic cells, tear film instability, and increased corneal thickness and degradation of limbal palisade architecture. These findings may help to elucidate the pathogenesis of aniridic keratopathy.
authors.affiliation: Department of Ophthalmology, Institute for Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden. ulla.eden@gmail.com
authors.forename: Ulla
authors.initials: U
authors.lastname: Edén
authors.forename: Per
authors.initials: P
authors.lastname: Fagerholm
authors.forename: Reza
authors.initials: R
authors.lastname: Danyali
authors.forename: Neil
authors.initials: N
authors.lastname: Lagali
mesh_terms: D000293:Adolescent; D000328:Adult; D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003315:Cornea / Q000294:innervation*; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics; D063171:Corneal Pachymetry; D003713:Dendritic Cells / Q000473:pathology; D019573:Epithelium, Corneal / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D033401:Microscopy, Acoustic; D018613:Microscopy, Confocal; D008875:Middle Aged; D009882:Ophthalmic Nerve / Q000473:pathology*; D010375:Pedigree; D011446:Prospective Studies; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult