CTNNB1 (ß-CATENIN) VITREORETINOPATHY: IMAGING CHARACTERISTICS AND SURGICAL MANAGEMENT.

ABSTRACT

PURPOSE: We report a patient with CTNNB1-associated vitreoretinopathy. We discuss imaging findings and surgical management. METHODS: Case report. RESULTS: An 18-month-old girl with microcephaly, failure to thrive, developmental delay, and chronic rhinitis presented with bilateral central and peripheral tractional retinal detachments and an anomalous retinal vasculature. She underwent multimodal imaging and genetic testing, and we discuss successful surgical management. CONCLUSION: CTNNB1 mutations can cause a vision-threatening vitreoretinopathy. We recommend CTNNB1 to be considered as part of the workup of patients presenting with familial exudative vitreoretinopathy-like clinical findings, especially if there are systemic manifestations.