Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous

PURPOSE: To report an unusual case of familial exudative vitreoretinopathy in an infant. METHODS: Case report, A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyp erplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting f amilial exudative vitreoretinopathy as the cause in both eyes. RESULTS: The microphthalmic right eye was unsalvageable. The left eye devel oped an exudative retinal detachment despite photocoagulation of the periph eral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes, CONCLUSIONS: With highly asymmetric involvement, neonatal familial exudativ e vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fel low eye involvement can progress rapidly. (Am J Ophthalmol 1999;127:469-471 . (C) 1999 by Elsevier Science Inc. All rights reserved.).