Persistent hyperplastic primary vitreous: congenital malformation of the eye

Abstract

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy

“…38,43 The positive effect of Wnt activator on hyaloid vessel regression is potentially relevant for not only FEVR but also other eye diseases with persistent fetal vasculature, previously known as persistent hyperplastic primary vitreous. 44 The pathogenesis of persistent fetal vasculature is still poorly understood, although Wntdependent and macrophage-mediated endothelial cell apoptosis was a major mechanism suggested in mediating hyaloid regression. 38 To date, FEVR has been primarily linked with mutations in not only LRP5 but also several other genes in the interrelated Wnt signaling pathway, including autosomal dominant Wnt receptor frizzled4 (FZD4) mutation, 5,45 X-linked recessive mutation of the Wnt ligand Norrin, 6,46e48 and autosomal dominant or recessive TSPAN12 mutations.…”

Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

“…It is often accompanied by microphthalmos, cataracts, and glaucoma. NDP (OMIM *300658, X-linked) and FZD4 (OMIM *604579, dominant) were found to be mutated in unilateral and bilateral PHPV [Shastry, 2009]. These genes also cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which share some clinical features with PHPV.…”

Phenotype-based Discovery of 2-[(E)-2-(Quinolin-2-yl)vinyl]phenol as a Novel Regulator of Ocular Angiogenesis

“…Later, hyaloid vessels undergo programmed regression, and a retinal vasculature forms by angiogenesis (1,18,19). Defects in hyaloid vasculature regression, known as persistent fetal vasculature, result in pathological eye conditions (20). In zebrafish, intraocular vasculature development is initially similar to mammals.…”