Genomics of extreme myopia phenotypes: a tool for the diagnosis of eye diseases

Myopia is the most common refractive disorder worldwide and is considered a public health problem because, although it is a benign condition, it can lead to visual impairment if uncorrected. On the other hand, the extreme phenotype or high-grade myopia is associated with potentially irreversible blinding conditions such as retinal detachment, glaucoma, myopic macular degeneration (neovascular membranes). The prevalence in Colombia has been poorly studied and probably underdiagnosed.
The development of myopia is multifactorial and previous studies have shown that it has a heritability between 50 and 90%. Notable genome-wide association studies (mostly done in Asia, Europe and North America) have described multiple genes involved in the development of this refractive error. Next-generation sequencing is a method that allows sequencing and analysis of the entire genome, enabling rapid detection of genetic mutations; such studies have been performed to diagnose multiple ophthalmological diseases, such as retinitis pigmentosa, cone and rod dystrophy and retinoblastoma. However, in the case of high-grade myopia, there is no standardised panel for accurate diagnosis and, to our knowledge, this type of research has not been developed in Latin America.

Functional genomics, molecular genetics, pathologies.