Prenatal ultrasonographic diagnosis of persistent hyperplastic primary vitreous

Abstract

Persistent hyperplastic primary vitreous (PHPV) is a rare developmental malformation of the eye characterized by the presence of a vascular membrane located behind the lens. We report, for the first time in the literature, the identification on ultrasound examination of bilateral cataract and thickened hyaloid artery-lens junction, leading to a diagnosis of bilateral PHPV, in a fetus at 23 weeks' gestation. Histological examination at postmortem confirmed the prenatal diagnosis of bilateral PHPV and cataract. A thorough ultrasound examination of the fetal eye in cases with cataract is recommended.