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

Ophthalmic Genetics
Elias TraboulsiAndré Mégarbané

Abstract

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. Clinical ophthalmological examination of all patients and fundus photography of the carrier mother were performed. 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. 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.

References

May 18, 1999·Archives of Ophthalmology·C CursiefenG O Naumann
Jan 7, 2004·American Journal of Medical Genetics. Part a·Hala MégarbanéAndré Mégarbané

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Citations

May 24, 2011·Orphanet Journal of Rare Diseases·Hala Mégarbané, André Mégarbané
Nov 7, 2012·Indian Dermatology Online Journal·Vinay ShankerAditi Prashar
Jan 19, 2010·Journal of the American Academy of Dermatology·Neil F FernandesRobert A Schwartz
Mar 19, 2011·International Journal of Dermatology·Ivana BinićMilanka Ljubenović
Nov 23, 2011·American Journal of Medical Genetics. Part a·Misako NaikiNobuaki Wakamatsu
Feb 17, 2015·Case Reports in Medicine·Catarina AraújoCeleste Brito
May 24, 2016·Indian Journal of Dermatology, Venereology and Leprology·Niharika Ranjan LalSudhakar Rao
Nov 5, 2017·The British Journal of Ophthalmology·Raman MalhotraVinzenz Oji
Dec 28, 2018·Ophthalmic Genetics·Arif O Khan, Amal M Al Teneiji
Jun 20, 2019·Molecular Genetics & Genomic Medicine·Yanyun JiangYueping Zeng

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