Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

Ophthalmic Genet. 2004 Jun;25(2):153-6. doi: 10.1080/13816810490514405.

Abstract

Purpose: 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Alopecia / genetics*
  • Alopecia / pathology
  • Child
  • Fundus Oculi
  • Humans
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Male
  • Photophobia / genetics*
  • Photophobia / pathology
  • Retinal Vessels / pathology
  • Siblings
  • Syndrome