Retinoblastoma in the Presence of Persistent Fetal Vasculature

Purpose: This work aims to report the challenging diagnosis, treatment, and follow-up of a patient with persistent fetal vasculature (PFV) and retinoblastoma (RB). Methods: A 22-month-old boy presented with unilateral RB stage VB in the right eye and PFV in both eyes. The patient was treated with transpupillary laser ablation and systemic chemotherapy. Results: Treatment resulted in complete tumor regression. Two years after the last systemic chemotherapy treatment, magnetic resonance imaging (MRI) showed increased signal intensity with progressive optic nerve enhancement, where intraneural malignancy could not be excluded. Enucleation of the right eye was performed. Histopathologic review showed no residual active malignancy in the enucleated globe. Conclusions: This case demonstrates the importance of a thorough clinical examination to establish the correct diagnosis and to rule out RB before any surgery. This case also highlights the importance of regular follow-ups after tumor regression with full a ophthalmologic examination, B-scan, and periodic MRI.