Amblyopia, also known as lazy eye, happens when there is a breakdown in how the brain and eyes work together, causing the brain to ignore visual input from one eye. Over the time, the brain relies on the stronger eye and the vision in the weaker one worsens.
Treatment for amblyopia include:
Patching the stronger eye, so that the brain starts accepting inputs from the weaker one
Using atropine drops in the stronger eye, which temporarily blurs near vision and forces the brain starts accepting inputs from the weaker eye
Of course, more is being learned about this condition, and new ways to detect it are being developed. Read on to learn more.
Amblyopia’s Genetic Roots
For years, it was thought that amblyopia was caused by abnormal visual experiences that happened early in a person’s life. A study done in the Department of Ophthalmology at Boston Children’s Hospital suggests there is more to the condition than previously thought.
This study looked at genetic data from over 120,000 participants in the National Institutes of Health (NIH) All of Us biomedical database. The findings suggest that, in addition to visual experience, genes involved in brain development may also play a part in the development of amblyopia.
Researchers used two kinds of genetic analysis to investigate the causes of amblyopia. One was a genome-wide association study (GWAS) to look for common genetic variants. The other was a rare variant association study (RVAS) to examine gene-level differences. The researchers compared the genes of those with and without amblyopia to see how they differed.
The GWAS identified four genetic regions associated with amblyopia. These regions are known as expression quantitative trait loci (eQTLs), meaning that changes in these DNA regions affect the expression of other genes. Those genes influence additional genes involved in neurodevelopment.
The RVAS analysis identified 15 genes that contained different numbers of variants in persons with amblyopia compared to those without the condition. Surprisingly, some of these gene are involved in neurodevelopment rather than eye growth or development. This suggested that amblyopia might be caused by underlying neurodevelopmental differences interacting with abnormal visual experience.
This may explain why some children with risk factors, such as strabismus (eye misalignment) or unequal refractive error, develop amblyopia while others don’t. It may also explain why some children respond well to treatment, while others don’t. This research suggests that children with amblyopia may have underlying neurodevelopmental differences that influence how their brains respond to differences between their eyes. It may also explain why some children with amblyopia experience slower reading speed or minor coordination problems.
With this information researchers hope to change how amblyopia is treated. Rather than relying on a one-size-fits-all approach, the goal is to develop targeted treatments that fit each child’s needs.
Open Access Tool to Detect Amblyopia
Of course, you can’t begin treatment until a child is diagnosed with amblyopia. That’s where work done at the Oregon Health & Science University comes in. Researchers developed an open-access tool to help clinicians diagnose and manage amblyopia. This is designed to expand access to evidence-based clinical-decision making for amblyopia.
The online resource gathers the relevant information and provides individualized treatment recommendations for doctors with internet access. For those without internet access, the information is available as downloadable clinical reference sheets.
Amblyopia responds well to treatment when it is detected early. However, treatment options exist for children of any age. The problem is that pediatric eye specialists aren’t always readily available. The hope is that this tool will reduce disparities in access to pediatric ophthalmic care.
The tool, known as the Amblyopia Navigator Decision-Support Instrument (ANDI), is designed to guide any eye doctor through the diagnosis and management of amblyopia. Once a diagnosis is made, ANDI helps the eye doctor who lack specialized training in pediatric eye care determine the most appropriate treatment options. For example, it can recommend the most appropriate prescription glasses and help determine how long to monitor whether glasses alone are improving vision.
If glasses aren’t enough, ANDI guides the doctor through the next steps, including patching the stronger eye, using atropine drops or considering digital treatments. If a child stops making progress, ANDI also advised whether the doctor to increase strength of treatment, try a different approach, reassess the eyeglass prescription or refer the child to a specialist. It also provides guidance for follow-up visits and the signs of recurrence.
The best thing about this tool is that it can be used at an initial evaluation or at any follow-up visits. To access ANDI, go to “https://public.jaeb.org/pedig/
When it came to amblyopia, it used to be put a patch on the kid and see if it works. Now researchers are uncovering the genetic basis of the condition, and doctors who aren’t pediatric specialists have access to an open access decision-support tool to diagnose and treat children with amblyopia.
These advances show what can happen when researchers aren’t satisfied with the status quo. The search for knowledge never ends and as it continues outcomes for children with amblyopia continue to improve.
Sources:
https://www.nei.nih.gov/eye-health-information/eye-conditions-and-diseases/amblyopia-lazy-eye
https://answers.childrenshospital.org/new-research-sheds-light-on-the-genetic-roots-of-amblyopia/