Liquid Biopsy Innovation in Eye Disease

Palo Alto, CA — Liquid biopsies are a groundbreaking approach in medicine that allows researchers to gather vital information about eye diseases through minimally invasive methods. Unlike traditional biopsies, which often require surgical procedures to obtain tissue samples, liquid biopsies analyze bodily fluids such as blood, urine, and now eye fluids to detect disease markers. This technique holds great promise for conditions like AMD, diabetic retinopathy, retinitis pigmentosa, glaucoma, and even ocular cancers. 

Vinit Mahajan, MD, PhD, professor of ophthalmology and vice chair for research at Stanford University, said, “By examining the aqueous humor and vitreous fluid, we can uncover molecular signatures that reflect the underlying pathology, paving the way for personalized treatment strategies and improved patient outcomes.”

The aqueous humor is a clear fluid found in the front of the eye, while the vitreous humor is a gel-like substance filling the space between the lens and the retina. Both fluids are rich in biological information, including proteins and metabolites. Recent Stanford studies have shown that liquid biopsies from these eye fluids can be safely collected in the clinic setting through a painless procedure. Patients often report that they experienced "less discomfort than a blood draw." Additionally, fluid can be taken during routine eye surgeries, such as cataract procedures. 

Mahajan said, "Liquid biopsies represent a transformative approach in ocular medicine, allowing us to gather critical insights into eye diseases while ensuring patient safety. This not only enhances our understanding of eye diseases but also opens new avenues for research and therapeutic development.”

Safety of Eye Liquid Biopsies

When it comes to medical procedures, safety is always a top priority. Mahajan’s research team conducted a comprehensive analysis of the safety profiles of aqueous humor liquid biopsies involving 1,418 cases performed during various intraocular surgeries. Their findings indicate that these procedures are consistently safe, with a near zero incidence of complications. By utilizing advanced text-searching strategies to review surgical reports and postoperative notes, they assessed outcomes and supported the increased use of aqueous humor biopsies for molecular analyses that can significantly enhance the understanding of disease mechanisms and therapeutic responses (Wolf et al., 2023).

In addition to aqueous humor biopsies, they also examined the safety of vitreous humor biopsies. Their study involved a detailed review of cases where vitreous biopsies were performed for proteomics research, focusing on specific indications such as suspected malignancy, uveitis, and diabetes. The results confirmed that these procedures could be conducted safely, allowing for the collection of vital information without posing significant risks to patients (Mahajan et al., 2023; Mahajan et al., 2024).

Transforming Clinical Trials with Liquid Biopsies

Liquid biopsies are not just a breakthrough for patient care; they also have the potential to revolutionize clinical trials in ophthalmology. The Mahajan lab is leading the charge in this area, utilizing molecular profiles obtained from liquid biopsies to identify patients who are most likely to respond to specific therapies. 

Mahajan emphasized, "By utilizing molecular profiles obtained from liquid biopsies, we can identify patients who are most likely to respond to specific therapies, enhancing the effectiveness of clinical trials." 

This targeted approach enhances the likelihood of successful outcomes while minimizing the exposure of patients to ineffective treatments. Moreover, liquid biopsies can be used to monitor therapeutic responses in real-time, allowing for adaptive trial designs that can adjust treatment protocols based on individual patient responses. 

The ability to predict outcomes based on proteomic signatures can lead to more informed decision-making in trial design, ultimately accelerating the development of new therapies and improving patient care (Mahajan et al., 2024).

Biobanking for Future Research

In addition to safety, establishing rigorous biobanking protocols for aqueous and vitreous liquid biopsies is crucial for advancing vision research. The Mahajan Lab's biobanking initiative creates a standardized collection process for these samples, ensuring that they are well-documented and easily accessible for future studies. 

Mahajan noted, "We’ve tested many methods and have established the gold-standard method for collecting samples. This method has now been applied to sites outside of Stanford." 

By annotating each sample with relevant metadata, researchers can correlate molecular data with clinical outcomes, ultimately leading to the identification of new prognostic biomarkers and therapeutic targets. This systematic approach not only enhances the quality of research but also fosters collaboration among scientists, paving the way for breakthroughs in the understanding and treatment of eye diseases (Mahajan et al., 2024).

Conclusion

Liquid biopsies from the eye represent a transformative frontier in eye medicine, offering insights into disease mechanisms while maintaining patient safety. As the Mahajan Lab continues to refine techniques and expand biobanking efforts, they look forward to unlocking new possibilities for personalized medicine in the field of ophthalmology. For patients, this means more effective treatments tailored to individual needs. For investors and pharmaceutical companies, this represents an exciting opportunity to be part of a transformative movement in eye care that could lead to groundbreaking therapies and improved patient outcomes.

References

20/20 Blog
Jul 29 2025