title: OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA.
abstract: OBJECTIVE
  Ectodermal dysplasia (ED) results from abnormal development of the ectodermal layer. Although coexistence of ED and retinal pathology has been described, concomitance with retinal venous tortuosity has not been reported in the literature.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  We report the case of a 23-year-old man with ED with bilateral retinal venous tortuosity, trichomegaly, meibomian gland dysfunction, and dry eye. Although the coexistence of ED with trichomegaly and meibomian gland dysfunction has been previously reported, to the best of our knowledge, this is the first reported case of retinal venous tortuosity associated with ED.
  
  
  CONCLUSIONS
  Coexistence of retinal venous tortuosity and ED may be the consequence of a genetic mutation affecting cellular signaling pathways during retinal angiogenesis.
authors.affiliation: Department of Ophthalmology, Dişkapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
authors.forename: Sinan
authors.initials: S
authors.lastname: Çalişkan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Köşker
authors.forename: Tolga
authors.initials: T
authors.lastname: Biçer
authors.forename: Osman
authors.initials: O
authors.lastname: Çelikay
authors.forename: Canan
authors.initials: C
authors.lastname: Gürdal
mesh_terms: D015352:Dry Eye Syndromes / Q000209:etiology*; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D008297:Male; D008537:Meibomian Glands / Q000473:pathology*; D012170:Retinal Vein Occlusion / Q000209:etiology*; D055815:Young Adult