A persistent fetal vasculature: A case report

Persistent fetal vasculature, previously called persistent hyperplastic primary vitreous, is a rare congenital condition where a component of fetal vessels within the eye fails to regress, leading to visual acuity decrease or loss. We present a case of a 13-year-old male patient, with a history of second-degree consanguinity, psychomotor development retardation, intellectual deficit from birth, in addition to a progressive bilateral visual acuity decrease. He recently presented a leukocoria in the right eye. Ultrasound and MRI were performed showing a linear structure traversing the vitreous antero-posteriorly, in addition to a retinal detachment and lens luxation, suggestive of posterior persistent fetal vasculature. We draw attention to the late age at diagnosis due to the insidious evolution in our case, and we highlight the importance of ultrasound and MRI in establishing the diagnosis and identifying associated brain malformations.