The Newly Discovered Genetic Driver of High Myopia — And Hope for Future Treatments?

High myopia is increasing around the world, and with it comes a higher risk of serious eye diseases such as retinal detachment, glaucoma, and myopic macular degeneration. Understanding why some eyes grow too long is crucial if we want to slow or stop the condition.

A new breakthrough study published in Cell Research has identified a powerful genetic driver behind high myopia: a gene called PRSS56. Researchers found that when PRSS56 is over‑active, it directly causes the eye to grow longer than normal — leading to high myopia. Even more exciting, the study shows that PRSS56 could become a future therapeutic target to help control or prevent severe myopia.

What Is High Myopia?

High myopia is usually defined as:

• Axial length greater than 26 mm, or

• Refractive error worse than –6.00 diopters.

It isn’t just “strong glasses.” Eyes with high myopia are physically stretched, which increases the chance of permanent vision problems later in life. The condition is partly environmental (e.g., too much near work, too little outdoor time), but genetics also play a major role.

Until now, scientists knew of several genetic regions linked to myopia, but few specific causal genes had been confirmed. The new PRSS56 research changes that.

What Did the New PRSS56 Study Discover?

1. PRSS56 Overexpression Causes Axial Elongation

Researchers studied large families with inherited high myopia and identified rare genetic variants that increased the activity of the PRSS56 gene. In all affected family members, these PRSS56‑boosting variants were present.

They then confirmed the effects by testing:

• Human cell models

• Genetically engineered mice

• Guinea pig myopia models

Across all models, increased PRSS56 levels consistently led to longer eyes, a key feature of high myopia.

2. PRSS56 Affects the Sclera — The Outer Layer of the Eye

PRSS56 makes a serine protease, an enzyme that helps break down and remodel proteins. The study found that over‑active PRSS56 interferes with the normal structure of the sclera, causing it to thin and stretch more easily.

This change in scleral strength appears to play a major role in abnormal eye elongation.

3. Light Exposure May Influence PRSS56 Levels

In guinea pigs, exposure to short‑wavelength (blue‑tinged) light reduced PRSS56 levels and slowed further eye elongation.

While this does NOT mean blue light is a cure, it suggests the gene responds to environmental cues — an important insight for future research into light therapies or preventive strategies.

4. PRSS56 Could Be a Therapeutic Target

Because the study showed that:

• increasing PRSS56 makes the eye grow longer, and

• suppressing PRSS56 reduces eye growth,

the gene becomes an exciting candidate for drug development.

Future treatments might aim to:

• block PRSS56 activity,

• reduce PRSS56 expression, or

• prevent its downstream effects in the sclera.

This could help protect children who are at risk of rapidly progressing myopia.

Why This Study Is a Major Breakthrough

First clear genetic cause of high myopia confirmed

Many previous studies showed associations between certain genes and myopia risk. This research demonstrates causation, meaning PRSS56 directly contributes to eye elongation — not just in theory, but in living organisms.

Connects genetics to real biological mechanisms

The study links PRSS56 to:

• scleral remodeling,

• changes in structural proteins, and

• altered eye growth pathways.

This gives scientists a clear roadmap for future treatments.

Opens the door to gene‑based or enzyme‑targeting therapies

If PRSS56’s activity can be safely reduced, it may be possible to slow or prevent high myopia in children who are genetically at risk.

Helps explain why some children progress faster than others

Not all kids with high near‑work habits develop high myopia. PRSS56 variants may help explain why some eyes are more biologically “sensitive” to environmental influences.

What Does This Mean for Parents and Patients?

While PRSS56‑targeting treatments are not yet available, this discovery is still incredibly important.

1. High myopia is strongly genetic

This research reinforces that high myopia can be inherited, and that genetics play a powerful role alongside lifestyle.

2. Early monitoring is essential

If parents or siblings have high myopia, children should have:

• Regular eye exams

• Axial length monitoring

• Early intervention if signs of elongation appear

3. Future treatments may become more personalised

Eventually, genetic testing could help identify which children are at risk of rapid progression, allowing earlier, tailored treatment.

4. Current myopia management still matters!

Even though PRSS56 is genetic, environmental management can still make a big difference. Evidence‑based strategies include:

• More time outdoors

• Limiting extended near work

• Atropine drops (where appropriate)

• Myopia‑controlling contact lenses or glasses

If you’d like to learn more about myopia management, including current treatment options and practical guidance for parents, visit our Complete Guide to Myopia Control.

PRSS56 acts as an intrinsic retinal signal driving postnatal ocular axial growth and myopia susceptibility

https://pubmed.ncbi.nlm.nih.gov/41648467/