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CASE REPORTS
JOURNAL ARTICLE
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
Ophthalmic Genetics 2004 June
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.
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.
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