Genetics and therapy for pediatric eye diseases

Ocular morphogenesis in vertebrates is a highly organized process, orchestrated largely by intrinsic genetic programs that exhibit stringent spatiotemporal control. Alternations in these genetic instructions can lead to hereditary or nonhereditary congenital disorders, a major cause of childhood visual impairment, and contribute to common late-onset blinding diseases. Currently, limited treatment options exist for clinical phenotypes involving eye development. This review summarizes recent advances in our understanding of early-onset ocular disorders and highlights genetic complexities in development and diseases, specifically focusing on coloboma, congenital glaucoma and Leber congenital amaurosis. We also discuss innovative paradigms for potential therapeutic modalities. Published by Elsevier B.V.

Automated summary

Ocular morphogenesis in vertebrates is a highly organized process regulated by genetic programs, alterations of which can lead to hereditary or nonhereditary congenital disorders. Limited treatment options currently exist, but advancements in research, particularly in understanding the genetic complexities of early-onset ocular disorders, are ongoing.