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

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.

• Alopecia
• carrier
• ichthyosis follicularis
• keratitis
• X-linked