Research Advances in Genetic Diagnosis of Systemic Diseases Associated with Early-Onset High Myopia

In recent years, as myopia has shown a trend towards onset at younger ages, ophthalmologists have begun to pay high attention to early-onset high myopia (eoHM) in children. Childhood high myopia is a condition closely associated with ocular and systemic diseases. Studies have found that approximately 54% of children with high myopia have accompanying systemic diseases. eoHM is typically closely related to genetic factors and is often comorbid with syndromes. Often, before high myopia is diagnosed, the underlying systemic disease may remain undiagnosed. Therefore, eoHM also serves as an important clue for the early clinical identification of potential systemic diseases. With the rapid development of genetic testing technologies, ophthalmologists have gained a deeper understanding of genes related to systemic diseases associated with eoHM. Strengthening its genetic diagnosis and research is crucial for the early prevention, early diagnosis, timely treatment, and long-term management of both vision and systemic diseases in children with eoHM. Furthermore, for children with eoHM, the collaboration of multidisciplinary teams is necessary to ensure the timely detection and treatment of possible syndrome-associated disorders caused by genetic factors, jointly completing the diagnostic and therapeutic work, and improving the management system for blinding complications of eoHM. This will ultimately provide children with reasonable and precise treatment, enhancing their visual quality and quality of life.