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Considering that hereditary myopia has polygenic traits, it is a multifactorial condition. As a renowned research services provider, Protheragen offers one-stop services for hereditary myopia diagnostics and therapeutic development.
Hereditary myopia or genetic myopia is a type of nearsightedness in which genes play a strong role. Unlike hereditary myopia, which has potential risk factors from lifestyle, environmental myopia is driven primarily by external factors. This condition exists when a person's eye has been subjected to a rapid growth period. Increased levels of nearsightedness are often noted. The genetic component of myopia is amply demonstrated in its clustering by family and its tendency to occur more frequently among family members. Myopia varies in severity, and so does its hereditary component, with the more serious types of myopia known to be associated with other ocular complications such as retinal detachment, myopic maculopathy, and glaucoma.
Fig.1 Mutational spectrum of the myopia genes identified by next-generation sequencing. (Cai X. B., et al., 2019)Genetic Testing and Linkage Analysis
Genetic testing has become a cornerstone in the diagnosis of hereditary myopia. Linkage analyses have identified several chromosomal regions associated with myopia, such as the MYP1 locus on the X chromosome and the MYP16 locus on chromosome 5p15.33-p15.2. These loci are linked to specific forms of myopia, including X-linked recessive and autosomal dominant high myopia. Next-generation sequencing (NGS) has further enabled the identification of specific mutations in genes like ZNF644 and CCDC111, which are implicated in the pathogenesis of high myopia.
Polygenic Risk Scores (PRSs)
In the light of recent evidence, polygenic risk scores (PRSs) have become one of the strongest predictors we have for progression of myopia. PRSs are constructed from multiple genetic markers of myopia and should prove useful in identifying individuals susceptible to develop high myopia. A recent unequivocal meta-analysis has proven that PRSs calculated from GWAS variants can reliably predict the progression of myopia to a reasonable extent. PRSs could be of immense significance in the anticipating classifiers for early interventions as well as targeted therapies.
For the growth of diagnostics and therapeutics related to inherited myopia, Protheragen offers end-to-end services. With advanced equipment and experience in genetic studies, we are in the position to conduct and interpret complex genetic testing. Using next-generation sequencing as well as polygenic risk score techniques, we excel at pinpointing the genetic variants and mutations related to myopia in order to predict its progression.
Protheragen's preclinical research services also encompass drug discovery and development for hereditary myopia. We collaborate with pharmaceutical companies to identify and validate new therapeutic targets based on our genetic findings. Our expertise in molecular biology and pharmacology allows us to develop and test novel compounds aimed at inhibiting myopia progression. We utilize in vitro and in vivo models to evaluate the efficacy and safety of potential therapeutic agents, ensuring that our discoveries translate into effective therapeutics.
If you are interested in our services, please feel free to contact us.
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