Genetic Research Uncovers Deeper Neurodevelopmental Roots of Amblyopia Beyond Visual Disruption

Recent genetic research challenges traditional understanding of amblyopia, a common childhood visual disorder. Typically considered a consequence of abnormal visual experiences, amblyopia—afflicting about 3% of the population—has long been viewed as primarily caused by disrupted visual input during early brain development. However, a groundbreaking study led by Dr. Mary Whitman of Boston Children's Hospital indicates that neurodevelopmental factors might play a critical role.

The study utilized extensive genetic data from over 120,000 participants in the NIH's All of Us Research Program, representing diverse populations. Using genome-wide association studies (GWAS) and rare variant analyses, researchers identified genetic regions and specific genes associated with amblyopia, many of which are involved in brain development rather than eye growth. This suggests that underlying neurodevelopmental differences may influence how the brain responds to visual innovations or deficiencies.

Key findings revealed four genetic regions linked to amblyopia, where changes affect gene expression involved in neurodevelopmental processes. Additionally, 15 genes with differing variation levels in affected individuals were identified, many of which are related to brain development rather than ocular structures.

These insights could explain why children with similar visual risk factors experience different outcomes and why some respond better to existing treatments, such as patching or pharmacological therapy. The research proposes that neurodevelopmental factors might impact the brain's response, contributing to the persistence or severity of amblyopia.

Understanding these deeper genetic and neurodevelopmental roots may revolutionize treatment strategies, shifting toward personalized therapies tailored to a child's unique genetic makeup. Such approaches could enhance effectiveness and lead to early interventions that address both visual and neural aspects of the disorder.

Ultimately, this research expands the perspective on amblyopia, emphasizing its complex neurodevelopmental basis and opening new avenues for innovative treatments that target root causes beyond visual input disruption.

Source: https://medicalxpress.com/news/2025-08-genetic-amblyopia-deeper-neurodevelopmental-roots.html