Persistent hyperplastic primary vitreous is a rare congenital ocular developmental malformation caused by the failure of regression of the primary vitreous during the embryonic development period. Peters anomaly is a monogenetic disease of congenital anterior segment dysgenesis. Recent studies have shown that these two diseases may occur concomitantly and be associated with a variety of systemic abnormalities. This review demonstrates the basis of ocular embryonic development, research status of molecular genetics, clinical manifestations, surgical objectives and progress of treatment of persistent hyperplastic primary vitreous with Peters anomaly, in order to provide guidance for clinical practice and research as well as to promote further progression of related gene detection.
永存原始玻璃体增生症是一种临床少见的眼部先天发育异常，为胚胎期原始玻璃体未能正常退化所致。Peters异常系一种先天性眼前节发育不良，为一种单基因遗传病。近年来研究表明，此两种疾病可伴发出现，并可合并多种全身异常表现。本文回顾永存原始玻璃体增生症伴发Peters异常的眼部胚胎发育基础、分子遗传学研究现状、临床表现、手术目的及治疗进展，以期为临床诊疗和研究工作提供参考，并推动该病基因检测的深入开展。.