Unlocking the Mysteries of High Myopia: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

High myopia, also known as severe nearsightedness, is a growing global health concern affecting millions of people. Recent advancements in genetic research have shed light on the underlying causes of this condition, and genetic testing is now playing a pivotal role in understanding, diagnosing, and managing high myopia. This article will explore the latest findings in high myopia research, the role of genetic testing, and how this knowledge can help those affected by the condition.

Understanding High Myopia

High myopia is a complex eye disorder characterized by extreme difficulty seeing distant objects clearly. It occurs when the eye grows too long from front to back, causing light to focus in front of the retina instead of directly on it. This refractive error can lead to severe vision impairment and increase the risk of other eye complications, such as retinal detachment, glaucoma, and cataracts.

While the exact causes of high myopia remain unclear, research suggests that both genetic and environmental factors contribute to its development. Recent studies have identified specific genes associated with high myopia, providing valuable insights into its genetic basis and potential treatment strategies.

Diagnosing High Myopia Through Genetic Testing

Genetic testing has emerged as a critical tool in diagnosing high myopia, particularly in cases of early-onset or familial high myopia. Whole exome sequencing, a technique that focuses on the protein-coding regions of the genome, has proven particularly useful in identifying the genetic causes of high myopia.

Whole Exome Sequencing of Eye Genes

A study published in Human Molecular Genetics found that whole exome sequencing using an eye gene panel successfully diagnosed the genetic cause of high myopia in 20% of the study population. This finding highlights the potential of genetic testing to reveal the underlying genetic factors contributing to high myopia and guide more targeted treatment approaches.

Next-Generation Sequencing in Familial High Myopia

In another study published in the International Journal of Molecular Sciences, next-generation sequencing was used to screen 43 families with non-syndromic early-onset high myopia. The study found pathogenic and likely pathogenic variants in 23.9% of the families, emphasizing the importance of systematic genetic analysis in patients with early-onset high myopia.

Using Genetic Testing to Inform Treatment Strategies

As our understanding of the genetic factors contributing to high myopia continues to grow, genetic testing is becoming increasingly important in guiding treatment strategies. One promising area of research is the use of gene variants to predict treatment response in high myopia patients with choroidal neovascularization.

Genetic Polymorphisms and Ranibizumab Response

A study published in Pharmaceutics identified significant associations between FLT1 and KDR gene variants and the efficacy of ranibizumab, a drug used to treat high myopia patients with choroidal neovascularization. This finding suggests that genetic testing could help identify patients who are more likely to respond to specific treatments, paving the way for personalized medicine in high myopia management.

Looking Ahead: The Future of High Myopia Research and Treatment

As we continue to unravel the genetic basis of high myopia, it is crucial that we also consider the environmental factors that contribute to its development. A recent article discusses the global pandemic of high myopia and highlights the importance of lifestyle changes, such as increased outdoor time and reduced screen time, in preventing the condition.

Genetic testing is playing an increasingly important role in our understanding, diagnosis, and treatment of high myopia. By combining genetic insights with environmental interventions, we can work towards more effective and personalized strategies to manage this complex and prevalent eye disorder.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)