title: Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.
abstract: Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Kanuni Sultan Suleyman Research and Teaching Hospital, Istanbul, Turkey aytulcorbacioglu@gmail.com.
authors: Aytul Corbacioglu
authors: AC
authors: Esmer
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
authors: Tugba Sarac
authors: TS
authors: Sivrikoz
authors: Department of Medical Genetics, Kanuni Sultan Suleyman Research and Teaching Hospital, Istanbul, Turkey.
authors: Elif Yilmaz
authors: EY
authors: Gulec
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Kanuni Sultan Suleyman Research and Teaching Hospital, Istanbul, Turkey.
authors: Salim
authors: S
authors: Sezer
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
authors: Ibrahim
authors: I
authors: Kalelioglu
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
authors: Recep
authors: R
authors: Has
authors: Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
authors: Atil
authors: A
authors: Yuksel
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D054514:Persistent Hyperplastic Primary Vitreous / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal; D014822:Vitreous Body / Q000000981:diagnostic imaging; D055815:Young Adult
keywords: Norrie disease; Walker-Warburg syndrome; obstetric ultrasound; persistent hyperplastic primary vitreous; prenatal diagnosis; retinal detachment; sonography