{"id":223211,"date":"2025-06-29T05:39:12","date_gmt":"2025-06-29T05:39:12","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/223211\/"},"modified":"2025-06-29T05:39:12","modified_gmt":"2025-06-29T05:39:12","slug":"new-research-sheds-light-on-the-genetic-roots-of-amblyopia","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/223211\/","title":{"rendered":"New research sheds light on the genetic roots of amblyopia"},"content":{"rendered":"

\t\t\t\t\t\t\t\"Close-upGenetics \u2014 particularly genes involved in brain development \u2014 may play a key role in how amblyopia develops. (Image: Adobe Stock)\t\t\t\t\t\t<\/p>\n

For decades, amblyopia<\/a> has been considered a disorder primarily caused by abnormal visual experiences early in life. But new research from Mary Whitman, MD, PhD<\/a>, pediatric ophthalmologist in the Department of Ophthalmology<\/a> at Boston Children\u2019s Hospital, and her colleagues suggests the story is more complicated.<\/p>\n

\u201cThere may be underlying neurodevelopmental differences in children with amblyopia that affect how their brain reacts to the differences in their eyes,\u201d says Whitman.<\/p>\n

A new lens on amblyopia<\/strong><\/p>\n

Amblyopia affects about 3 percent of the population and typically develops in childhood when the brain favors one eye over the other, leading to reduced vision that persists into adulthood if untreated. Until now, the condition was largely viewed as the result of disrupted visual input during the brain\u2019s critical period of development.<\/p>\n

This research, published in Ophthalmology, is one of the largest genetic studies of amblyopia to date and provides compelling evidence that the condition may have deeper neurodevelopmental roots<\/a>. The study examined genetic data from over 120,000 participants in the National Institutes of Health\u2019s All of Us Research Program, a diverse biomedical database. The findings suggest that in addition to visual experience, genetics \u2014 particularly genes involved in brain development \u2014 may play a key role in how amblyopia develops.<\/p>\n

Digging into the data<\/strong><\/p>\n

Whitman and her team used two types of genetic analysis to explore the underlying causes of amblyopia: a genome-wide association study (GWAS) to look for common variants, and a rare variant association study (RVAS) to examine gene-level differences. Their goal was to compare the genes of people with and without amblyopia to see how they differ.\u00a0<\/p>\n

In the GWAS, four genetic regions showed suggestive associations with amblyopia. \u201cEach of those is what\u2019s called an \u2018expression quantitative trait locus,\u201d Whitman says, \u201cmeaning a change at that base pair affects the expression of another gene \u2014 and the genes that they influence are involved in neurodevelopment.\u201d<\/p>\n

The RVAS identified 15 genes with different numbers of variants in people with amblyopia versus those without. \u201cA number of those genes are neurodevelopmental genes. But they\u2019re not genes associated with eye growth or eye development like we had expected to find,\u201d Whitman explains. \u201cInstead, amblyopia may result from underlying neurodevelopmental differences interacting with abnormal visual experience.\u201d<\/p>\n

Transforming amblyopia treatment: A future of targeted therapies<\/strong><\/p>\n

The findings offer a possible explanation for why some children with similar visual risk factors \u2014 like strabismus (eye misalignment) or unequal refractive error \u2014 go on to develop amblyopia, while others do not. They also shed light on why some children respond well to treatment and others don\u2019t.<\/p>\n

Current treatments for amblyopia focus on forcing the brain to use the weaker eye. This includes methods like patching the stronger eye, using atropine drops to blur it, and, more recently, virtual reality-based therapies. These methods can be effective, but they don\u2019t work for every child with amblyopia \u2014 and they don\u2019t get at the root causes of the condition.<\/p>\n

Whitman\u2019s research points to a possible reason: Children with amblyopia may have underlying neurodevelopmental differences that influence the way their brains react to the differences in their eyes. This may also help explain why some children with amblyopia experience mild difficulties, such as slower reading speed or minor coordination issues.<\/p>\n

By better understanding these underlying factors, Whitman and her team hope to change how amblyopia is treated. Their goal is to move beyond one-size-fits-all approaches and develop more targeted therapies tailored to each child\u2019s needs. \u201cUltimately, we hope this work helps us move toward more personalized and effective treatments,\u201d says Whitman. \u201cAnd it gives us a better understanding of the children we care for.\u201d<\/p>\n

Learn more about the Department of Ophthalmology<\/a><\/p>\n

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