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

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.