Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

Authors

Vincent Le
Gabrielle Abdelmessih
Wendy A Dailey
Cecille Pinnock
Victoria Jobczyk
Revati Rashingkar
Kimberly A. Drenser, Beaumont Health
Kenneth P Mitton

Document Type

Article

Publication Date

11-5-2023

Publication Title

Cells

Abstract

Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS) are extremely rare retinopathies that are clinically distinct but are unified by abnormal retinal endothelial cell function, and subsequent irregular retinal vascular development and/or aberrant inner blood-retinal-barrier (iBRB) function. The early angiogenesis of the retina and its iBRB is a delicate process that is mediated by the canonical Norrin Wnt-signaling pathway in retinal endothelial cells. Pathogenic variants in genes that play key roles within this pathway, such as

Volume

12

Issue

21

First Page

2579

Recommended Citation

Le V, Abdelmessih G, Dailey WA, Pinnock C, Jobczyk V, Rashingkar R, et al [Drenser KA] Mechanisms underlying rare inherited pediatric retinal vascular diseases: fevr, norrie disease, persistent fetal vascular syndrome. Cells. 2023;12(21). PMID: 37947657

DOI

10.3390/cells12212579

ISSN

2073-4409

PubMed ID

37947657