Pediatric retinal vascular disorders: From translational sciences to clinical practice

Area of Science:

• Ophthalmology
• Genetics
• Developmental Biology

Background:

• Pediatric retinal vascular diseases encompass a range of conditions with shared phenotypes and genetic underpinnings.
• Retinal vascular development occurs in two phases: vasculogenesis and angiogenesis.
• Key signaling pathways, including vascular endothelial growth factor (VEGF) and WNT signaling, regulate vascular formation and maturation.

Purpose of the Study:

• To explore the overlapping genetic basis and phenotypic spectrum of pediatric retinal vascular developmental diseases.
• To elucidate the role of genetic variants in the pathogenesis of these conditions.

Main Methods:

• Review of existing literature on pediatric retinal vascular diseases, focusing on genetic factors and developmental pathways.
• Analysis of the interplay between genetic predispositions and environmental or developmental insults.

Main Results:

• Familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) share overlapping clinical and genetic features.
• Pathogenic variants in FEVR-related genes are implicated in other pediatric retinal vascular conditions.
• WNT signaling plays a critical role in retinal vascular development, and its dysregulation contributes to disease.

Conclusions:

• Genetic variants provide a foundational susceptibility for pediatric retinal vascular diseases.
• Environmental factors and developmental timing interact with genetic backgrounds to shape the final clinical presentation.
• Understanding these genetic and developmental interactions is crucial for diagnosing and managing pediatric retinal vascular diseases.