Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
OBJECTIVE
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.
Traboulsi
Elias
E
Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA. traboue@ccf.org
Waked
Naji
N
Mégarbané
Hala
H
Mégarbané
André
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D002648:Child; D005654:Fundus Oculi; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D020795:Photophobia / Q000235:genetics* / Q000473:pathology; D012171:Retinal Vessels / Q000473:pathology; D035781:Siblings; D013577:Syndrome