Exploring the Genetic Landscape of Childhood Glaucoma

Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms. Primary childhood glaucoma stands as the most prevalent subtype, comprising primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG...

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Bibliographic Details
Main Authors: Yang Pan (Author), Takeshi Iwata (Author)
Format: Book
Published: MDPI AG, 2024-04-01T00:00:00Z.
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Summary:Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms. Primary childhood glaucoma stands as the most prevalent subtype, comprising primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Presently, multiple genes are implicated in inherited forms of primary childhood glaucoma. This comprehensive review delves into genetic investigations into primary childhood glaucoma, with a focus on identifying causative genes, understanding their inheritance patterns, exploring essential biological pathways in disease pathogenesis, and utilizing animal models to study these mechanisms. Specifically, attention is directed towards genes such as <i>CYP1B1</i> (cytochrome P450 family 1 subfamily B member 1), <i>LTBP2</i> (latent transforming growth factor beta binding protein 2), <i>TEK</i> (TEK receptor tyrosine kinase), <i>ANGPT1</i> (angiopoietin 1), and <i>FOXC1</i> (forkhead box C1), all associated with PCG; and <i>MYOC</i> (myocilin), associated with JOAG. Through exploring these genetic factors, this review aims to deepen our understanding of the intricate pathogenesis of primary childhood glaucoma, thereby facilitating the development of enhanced diagnostic and therapeutic strategies.
Item Description:10.3390/children11040454
2227-9067