FAMILIAL EXUDATIVE VITREORETINOPATHY WITH NASAL RETINAL INVOLVEMENT: A RARE PRESENTATION.

Abstract

Purpose: To present a case of familial exudative vitreoretinopathy with nasal retinal involvement and aim to describe the clinical presentation, diagnostic findings, management strategies, and genetic testing.

Methods: An evaluation of a 31-year-old female patient with familial exudative vitreoretinopathy presenting with predominate nasal retinal involvement. Diagnostic tests-including fundus examination, optical coherence tomography, fluorescein angiography, and genetic testing-were performed. The patient's management involved intravitreal injection of 1.25 mg/0.05 mL of bevacizumab in the left eye and sectoral panretinal photocoagulation in both eyes.

Results: The patient exhibited discrete neovascularization and tortuosity predominantly localized to the nasal retinal blood vessels. Optical coherence tomography imaging showed macular schisis and vitreomacular traction without retinal detachment. Genetic testing identified a likely pathogenic variant associated with autosomal dominant and recessive exudative vitreoretinopathy. Treatment with bevacizumab and panretinal photocoagulation resulted in regression of neovascularization and improvement in macular schisis. Conclusion: This case report highlights an atypical presentation of familial exudative vitreoretinopathy with nasal retinal involvement. Early recognition and genetic testing aids in diagnosis and management.