Advances in genetic research on complications of pathological myopia

Pathological myopia is characterized by excessive axial elongation with structural changes at the posterior pole of the eye and should be distinguished from high myopia in clinical practice.People with pathological myopia are more likely to develop cataracts, glaucoma, and a range of retinal and choroidal pathologies than those with high myopia.To date, a large number of genetic studies have provided us with gene loci associated with the onset and development of high myopia and many ocular complications through genome-wide association analysis, family studies, and case reports.Among these genes, some play essential roles in both axial elongation and related complications.Considering that pathologic myopia is different from high myopia in the aspects of clinical manifestation and prognosis, and has a characteristic genetic background, this article attempts to summarize the genes associated with pathological myopia-related complications.There are changes in the expression of collagen, antioxidation, and fundus disease-related genes in people with pathological myopia complicated with early-onset and rapidly progressing nuclear cataracts.There are variations in the hypertension and collagen-related genes in patients with pathological myopia complicated with open-angle glaucoma.In addition, gene variations related to collagen and growth factors are associated with many pathological myopia complicated with fundus diseases.Further understanding of the genetic background of the complications of pathological myopia will help lay the foundation for future research on the characteristic genetic changes of the disease to provide new tools for the clinical diagnosis of it and the prevention and treatment of complications.

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