title: Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.
abstract: OBJECTIVE
  This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment.
  
  
  METHODS
  This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment.
  
  
  CONCLUSIONS
  In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.
authors.affiliation: *OD, FAAO †PhD ‡OD Indiana University School of Optometry, Bloomington, Indiana.
authors.forename: Jane Ann
authors.initials: JA
authors.lastname: Grogg
authors.forename: Nicholas
authors.initials: N
authors.lastname: Port
authors.forename: Trevor
authors.initials: T
authors.lastname: Graham
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017075:Laser Coagulation; D008297:Male; D008969:Molecular Sequence Data; D012167:Retinal Perforations / Q000175:diagnosis* / Q000601:surgery; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins