| Abstrakt: |
A recent study published by researchers at Oakland University explores the mechanisms underlying rare inherited pediatric retinal vascular diseases, specifically Familial Exudative Vitreoretinopathy (FEVR), Norrie disease, and persistent fetal vascular syndrome (PFVS). These retinopathies are characterized by abnormal retinal endothelial cell function and irregular retinal vascular development. The study highlights the role of genes involved in the Norrin Wnt-signaling pathway, such as NDP, FZD4, TSPAN12, and LRP5, in the incidence of these diseases. Additionally, the researchers discuss recent discoveries of pathological variants in other genes, such as CTNNB1, KIF11, ZNF408, CTNND1, CTNNA1, and EMC1, which further contribute to our understanding of these conditions. The goal of the study is to provide insight into the functional mechanisms that can be altered to cause these rare pediatric retinal vascular diseases. [Extracted from the article] |
