Familial Exudative Vitreoretinopathy (FEVR) with Nasal Retinal Involvement: A Rare Presentation.

Abstract

To present a case of FEVR with nasal retinal involvement and aim to describe the clinical presentation, diagnostic findings, management strategies, and genetic testing. An evaluation of a 31-year-old female patient with FEVR presenting with predominate nasal retinal involvement. Diagnostic tests-including fundus examination, OCT, 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. OCT 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 FEVR with nasal retinal involvement. Early recognition and genetic testing aids in diagnosis and management.