Persistent fetal vasculature (PFV), or persistent hyperplastic primary vitreous (PHPV), is a rare condition involving abnormal development of the vitreous and retinal structures. This case report highlights a premature male infant, born at 35 weeks gestation weighing 2.135 kg, who presented with PFV, hydrocephalus, and developmental delay. The infant underwent an emergency cesarean section due to fetal distress. Antenatal ultrasound revealed significant ventriculomegaly (43 mm). Postbirth, the infant required brief positive pressure ventilation and was admitted to the NICU. Initial CT brain imaging revealed hydranencephaly, and ocular evaluations, including fundoscopy and B-scan ultrasound, revealed a hyperechoic mass in the left eye, which raised the suspicion of retinoblastoma. However, a later CT orbit study ruled out a mass or calcifications, confirming a diagnosis of PFV affecting the left eye, with no mass lesions or calcifications present. Whole exome sequencing (WES) identified a de novo mutation in the COL4A1 gene (c.1802G > T p.(Gly601Val)). The infant remained in the NICU for 65 days, where he remained hemodynamically stable and was able to tolerate full oral feeding. He was discharged home in stable condition. This case emphasizes the importance of considering PFV in the differential diagnosis in the presence of leukocoria or microphthalmia. Differentiating PFV from retinoblastoma can be difficult because PFV usually affects one eye and does not show calcification, whereas retinoblastoma often presents with calcified masses. Advanced imaging techniques, such as CT scans, play an important role in accurate diagnosis. A comprehensive ophthalmic examination and further diagnostic workup are essential in these cases.
