title: Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.
abstract: OBJECTIVE
  To report an unusual case of bilateral Peters anomaly in Peters Plus syndrome.
  
  
  METHODS
  Systematic analysis and description of relevant clinical features, histopathological, and genetic findings.
  
  
  RESULTS
  A premature neonate, born after 34 weeks of gestation, presented with typical features of Peters Plus syndrome and bilateral corneal opacification with central clearing. Peters Plus syndrome was confirmed by the identification of a homozygous mutation in the B3GALTL gene. When a flat anterior chamber was observed and perforation was suspected both corneas necessitated corneal transplantation (left cornea transplanted at 4 weeks of age, right cornea at the age of 9 weeks). Histopathological analysis of the left cornea revealed a central defect with absence of all corneal layers except for the corneal epithelium. The right cornea revealed central absence of the corneal endothelium and Descemet membrane as well, but the central stroma consisted of a cellular meshwork rich in fibroblasts. There were no signs of iridocorneal or keratolenticular adhesions.
  
  
  CONCLUSIONS
  We report the histopathology of serially obtained left and right cornea of a premature neonate with Peters Plus syndrome. As demonstrated in the left cornea, the child had a central defect of all corneal layers except for the corneal epithelium. Histopathological analysis of the right cornea obtained 5 weeks later revealed that the defect had induced fibrovascular tissue repair. The sequence of events we report in the corneas of our patient may help to better understand the pathogenesis of corneal (and anterior chamber) abnormalities in Peters Plus syndrome.
authors.affiliation: *Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; and †Department of Pathology, Radboud University Medical Center Nijmegen and VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Karlijn F
authors.initials: KF
authors.lastname: de Nie
authors.forename: Pieter
authors.initials: P
authors.lastname: Wesseling
authors.forename: Catharina A
authors.initials: CA
authors.lastname: Eggink
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003315:Cornea / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D003318:Corneal Opacity / Q000175:diagnosis* / Q000601:surgery; D005700:Galactosyltransferases / Q000235:genetics; D005865:Gestational Age; D005964:Glucosyltransferases / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D019102:Infant, Very Low Birth Weight; D015948:Keratoplasty, Penetrating; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D009154:Mutation
chemical_list: C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases