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.
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.
Authors: Frank Oeffner; Gayle Fischer; Rudolf Happle; Arne König; Regina C Betz; Dorothea Bornholdt; Ulrike Neidel; María del Carmen Boente; Silke Redler; Javier Romero-Gomez; Aïcha Salhi; Angel Vera-Casaño; Christian Weirich; Karl-Heinz Grzeschik Journal: Am J Hum Genet Date: 2009-04 Impact factor: 11.025