Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy

Abstract

Familial exudative vitreoretinopathy and osteoporosis pseudoglioma syndrome are conditions that result from mutations in the LRP5 gene. Persistent fetal vasculature is a rare congenital malformation that can mimic end-stage familial exudative vitreoretinopathy. The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature. Both conditions can result in bilateral early-onset blindness. A high index of suspicion, dilated fundus examination and angiography of the parents, and genetic testing are necessary to ensure a correct diagnosis.