Familial Exudative Vitreoretinopathy Phenotype in a Full-term Infant with Cri-du-Chat Syndrome

PURPOSE: To describe a familial exudative vitreoretinopathy (FEVR) phenotype with progressive neovascularization in a full-term infant with genetically confirmed cri-du-chat (CdC) syndrome. METHODS: Retrospective case report with serial examinations under anesthesia (EUA), fundus photography, and fluorescein angiography (FA). RESULTS: A 1-year-old female with CdC due to a maternally inherited unbalanced translocation (terminal 5p deletion, terminal 10q duplication) presented with bilateral microphthalmos and a phenotype resembling FEVR. The right eye demonstrated a falciform retinal fold with extensive peripheral nonperfusion. The left eye had temporal dragging, preretinal hemorrhage, and less extensive nonperfusion. After laser photocoagulation to the left eye, the hemorrhage resolved but progressive neovascularization required additional laser treatment. The right eye remained stable. CONCLUSION: CdC syndrome may be associated with a FEVR-like phenotype including asymmetric peripheral nonperfusion and progressive neovascularization. Genes along the 5p locus may contribute to impaired retinal vascular development. Retinal screening with FA may be considered in CdC patients.