title: Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
abstract: OBJECTIVE
  To report the ocular findings in two siblings with IFAP and their mother and to review the natural course of the keratopathy of this disease.
  
  
  METHODS
  Clinical ophthalmological examination of all patients and fundus photography of the carrier mother were performed.
  
  
  RESULTS
  Both affected male children had severe photophobia, total superficial and deep corneal vascularization, and reduction of vision to counting fingers.The mother had tortuous retinal vessels.
  
  
  CONCLUSIONS
  Males with IFAP have an inexorable progression of corneal vascularization and loss of vision. Retinal vascular tortuosity may be another clinical sign of carrier status in females.
authors.affiliation: Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA. traboue@ccf.org
authors.forename: Elias
authors.initials: E
authors.lastname: Traboulsi
authors.forename: Naji
authors.initials: N
authors.lastname: Waked
authors.forename: Hala
authors.initials: H
authors.lastname: Mégarbané
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D002648:Child; D005654:Fundus Oculi; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D020795:Photophobia / Q000235:genetics* / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D035781:Siblings; D013577:Syndrome