Abstract

Background: Pathological myopia, a severe variant of myopia, extends beyond the typical refractive error associated with nearsightedness. While the condition has a strong genetic component, the intricate mechanisms of inheritance remain elusive. Some genes have been associated with the development of pathological myopia, but their exact roles are not fully understood. Objective: This study aimed to identify novel genes associated with pathological myopia. Methods: Our study leveraged DisGeNET to identify 184 genes linked with high myopia and 39 genes related to degenerative myopia. To uncover additional pathological myopia-associated genes, we employed the random walk with restart algorithm to investigate the protein-protein interactions network. We used the previously identified 184 high myopia and 39 degenerative myopia genes as seed nodes. Results: Through subsequent screening tests, we discarded genes with weak associations, yielding 103 new genes for high myopia and 33 for degenerative myopia. Conclusion: We confirmed the association of certain genes, including six genes that were confirmed to be associated with both high and degenerative myopia. The newly discovered genes are helpful to uncover and understand the pathogenesis of myopia.

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