Persistent hyperplastic primary vitreous, autosomal recessive- MedGen UID:
- 370100
- •Concept ID:
- C1969783
- •
- Disease or Syndrome
Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).
PHPV shares phenotypic overlap with Norrie disease (310600).
Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous
A dominant form of PHPV has been described (PHPVAD; 611308).