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Updated: Jul 6, 2025
Assessment of Vascular Regeneration in the CNS Using the Mouse Retina
Published on: June 23, 2014
Pediatric retinal vascular disorders: From translational sciences to clinical practice
1Department of Vitreoretina Services, Aravind Eye Hospital, Chennai, Tamil Nadu, India.
Insights
Pediatric retinal vascular diseases share genetic links and overlapping features. Genetic variants may predispose children to these conditions, with external factors influencing the final phenotype.
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.
Abstract:
Pediatric retinal vascular diseases are a spectrum with overlapping phenotypes and related genes. Retinal vascular development is biphasic. Vasculogenesis is responsible for the formation of primordial vessels leading to the four major arcades in the posterior retina. Angiogenesis, which is vascular endothelial growth factor dependent, is responsible for the formation of new vessels through budding from existing vessels, forming the peripheral vessels, increasing the capillary density of the central retina, and forming the superficial and deep capillary plexus. This process is controlled by WNT signaling, which is important for cell proliferation, division, and migration. Disorders of WNT signaling, such as familial exudative vitreoretinopathy (FEVR), have overlapping clinical findings. Conversely, pathogenic variants in some of the FEVR-related genes are reported in conditions such as retinopathy of prematurity (ROP), persistent fetal vasculature, and Coats disease. The various overlapping features and underlying genetic basis in the pathogenesis of pediatric retinal vascular developmental diseases suggest that genetic variants may provide a framework or a background for these conditions, upon which further insults can affect the development at any phase (such as prematurity and oxygenation in ROP), influencing and determining the final phenotype.
