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Ophthalmic Genet. 2004 Jun;25(2):153-6.

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

Author information

  • 1Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA. traboue@ccf.org

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.

PMID:
15370546
DOI:
10.1080/13816810490514405
[PubMed - indexed for MEDLINE]
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