Department of Ultrasound Diagnosis, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China,
Gansu Provincial Ultrasound Imaging Clinical Medicine Research Center, Lanzhou, China,
Fetal Diagn Ther. 2022;49(7-8):306-310. doi: 10.1159/000527062. Epub 2022 Sep 20.
Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities characterized by the presence of a vascular membrane behind the lens. Retinoblastoma is a life-threatening intraocular malignancy that can cause blindness, eye loss, or even death. PHPV and retinoblastoma are extremely rare prenatal diseases.
Here, we present a case of fetal PHPV with retinoblastoma diagnosed using prenatal ultrasound. The unilateral lenses were hyperechoic, and irregular echogenic bands between the lenses and posterior eye walls were observed. In cases where the blood flow signal continues in the band-shaped hyperechoic area, PHPV with retinoblastoma should be suspected.
PHPV with retinoblastoma can be prenatally diagnosed.
永存原始玻璃体增生症(PHPV)涉及一系列以晶状体后存在血管膜为特征的先天性眼部异常。视网膜母细胞瘤是一种危及生命的眼内恶性肿瘤,可导致失明、眼球丧失,甚至死亡。PHPV 和视网膜母细胞瘤是极为罕见的产前疾病。
在此,我们报告了一例产前超声诊断的胎儿 PHPV 合并视网膜母细胞瘤病例。单侧晶状体呈强回声,晶状体与后眼部之间可见不规则的强回声带。如果带状强回声区的血流信号持续存在,则应怀疑 PHVP 合并视网膜母细胞瘤。
PHPV 合并视网膜母细胞瘤可在产前诊断。