Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital ocular developmental anomaly that can lead to significant visual impairment if not promptly recognized and managed. We present a case of a one-month-old male infant who presented with decreased opening of the left eye and leukocoria. Clinical examination revealed a white pupillary reflex with absent visual fixation. Ophthalmoscopic evaluation demonstrated a grey retrolental mass with prominent vascular loops. B-scan ultrasonography identified a characteristic retrolental mass connected to the optic nerve head by a thin stalk. Magnetic resonance imaging confirmed the diagnosis, revealing microphthalmos with a V-shaped retrolental fibrovascular mass extending to the optic nerve head, accompanied by complete retinal detachment and vitreous hemorrhage. The absence of calcification helped differentiate this condition from retinoblastoma. Due to the severity of structural abnormalities and poor visual prognosis, enucleation with serial conformer placement was performed. This case highlights the importance of multimodal imaging in diagnosing PHPV and emphasizes the role of MRI in surgical planning and excluding associated intracranial anomalies.