Bilateral persistent fetal vasculature and a chromosome 10 mutation including COX15

<p>Diagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights</p>

“…5 NDP gene and COX15 gene mutations on chromosome 10 were also reported in bilateral PFV cases. [6][7][8][9] Apart from the aforementioned genes, the ZNF408 gene, which was previously found in autosomal recessive retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy (ADFEVR), was also described in PFV cases with microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma syndrome (MPPC syndrome). 10 FZD4 (Frizzled class receptor 4), which is a gene related to familial exudative vitreoretinopathy (FEVR), was also found to be related to some PFV cases.…”

“…12 Consultation with an ocular geneticist is recommended in cases of bilateral PFV to rule out other ocular or systemic associations, as well as for genetic counselling relative to future offspring in complex patients. 9…”

Anterior–Posterior Persistent Fetal Vasculature With Multiple Stalks: Persistent Vasa Hyaloidea Propria

“…1 Persistent fetal vasculature is usually unilateral and sporadic, though in some cases bilateral PFV may accompany syndromic conditions such as trisomy 13, 15, or 18, and muscle eye brain diseases. [2][3][4] As the fetus develops, the hyaloid artery emanates from the optic nerve and connects to the tunica vasculosa lentis that envelops and nourishes the developing lens. 1,5 The tunica vasculosa lentis, which has an anterior and posterior component, anastomoses with looping branches anteriorly that grow into the pupillary aperture and form the pupillary membrane.…”

“…1 Persistent fetal vasculature is usually unilateral and sporadic, though in some cases bilateral PFV may accompany syndromic conditions such as trisomy 13, 15, or 18, and muscle eye brain diseases. 2 -4…”

Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis

“…In humans, PHPV incidence was found to be an autosomal dominant inheritance pattern in an Egyptian family ( 10 ). Mutations in the NDP gene and the COX15 gene on chromosome 10 have been found in cases of bilateral PHPV ( 11 – 14 ). The ZNF408 gene, which had previously been found in retinitis pigmentosa and autosomal dominant familial exudative vitreoretinopathy (ADFEVR) was also identified in PHPV cases of microcornea, posterior megalolenticonus, and coloboma syndrome (MPPC syndrome) ( 15 ).…”