Serpiginous Intraretinal Lesions Associated With Familial Exudative Vitreoretinopathy

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder affecting retinal angiogenesis that may present with a wide range of phenotypic characteristics. In this report, the authors describe an atypical presentation of FEVR in a healthy 9-year-old male with progressive decreased visual acuity in the left eye. Fundus examination showed an avascular retina in the temporal periphery bilaterally. The left eye also revealed serpiginous hypopigmented lesions in the superior quadrant, which showed intraretinal location on optical coherence tomography and hyperautofluorescence. Genetic testing revealed LRP5 mutation, confirming a diagnosis of FEVR. The serpiginous lesions represent an unusual finding associated with FEVR not previously described in the literature. [ Ophthalmic Surg Lasers Imaging Retina . 2021;52:155–159.]