How Precision Medicine Is Changing Ophthalmology

Eye conditions with the same diagnosis can behave differently and may not respond to treatment in the same way. Precision medicine aims to use information about your genes, eye structure, disease characteristics, general health and previous treatment response to make decisions that are more relevant to you.

Some personalised approaches are already used in specialist eye care, particularly when you have an inherited retinal disease or receive treatment requiring repeated imaging. Polygenic risk scores, complex biomarker panels and many artificial intelligence predictions remain under investigation and are not yet routine tests.

What Is Precision Medicine?

Precision medicine uses information about your individual characteristics to support decisions about your diagnosis, monitoring and treatment. Your care may still follow an evidence-based clinical pathway, but parts of that pathway can be adjusted according to your specific condition and response.

Your ophthalmologist may consider your genetic findings, imaging, disease severity, general health and previous treatment response. The aim is to make your care more appropriate for you without assuming that every new test or prediction will improve your outcome.

What Information Can Be Used?

Your personalised assessment may include findings from your eye examination, OCT, retinal photography, visual-field testing, eye-pressure measurements, corneal measurements, blood tests or genetic testing when these are relevant to your condition.

Your ophthalmologist may also consider your age, general health, medicines, lifestyle, family history and treatment priorities. The information used should have a clear clinical purpose rather than being collected simply because a test is available.

Why Is Ophthalmology Suited to Precision Medicine?

Your eye can be measured in great detail using advanced, non-invasive imaging techniques. Tests such as OCT scans allow your ophthalmologist to examine small structural changes that may not be visible during a standard eye examination.

By repeating these scans over time, your clinician can monitor how your condition changes and assess how well you are responding to treatment. This detailed information makes ophthalmology particularly suited to more personalised approaches to care.

Genetic Testing for Inherited Retinal Disease

If your ophthalmologist suspects an inherited retinal disease, genetic testing may help identify the genetic variant responsible. Your result may confirm or refine your diagnosis, provide information about inheritance and help your relatives understand whether they may also be affected.

Your test may not always identify a cause, and it may find a variant whose significance is uncertain. Your result should therefore be interpreted alongside your symptoms, family history, retinal imaging and specialist examination, with genetic counselling when appropriate.

Future Gene and RNA Therapies

Researchers are developing gene-replacement, gene-editing and RNA-based treatments for inherited retinal diseases. Whether one of these treatments could be relevant to you may depend on the gene and genetic variant involved, the type and stage of your retinal condition, the health of your remaining retinal cells and the eligibility criteria for the particular treatment or clinical trial.

Voretigene neparvovec is available through specialised NHS services for selected people whose vision loss is caused by an inherited retinal dystrophy involving confirmed disease-causing variants in both copies of the RPE65 gene and who have sufficient viable retinal cells.

Most other gene-editing and RNA-based treatments remain investigational. Taking part in a clinical trial does not guarantee that you will receive or benefit from the treatment being studied.

Aspect	Explanation	Why It Matters	Current Status
Gene replacement	Delivers a working copy of a gene to selected retinal cells	It may support retinal function when your condition and remaining retinal cells meet the treatment criteria	One NICE-recommended gene therapy is available through specialised NHS services for eligible RPE65-related inherited retinal disease
Gene editing	Modifies DNA to correct genetic changes	Targets the root cause of disease	Mostly in research and clinical trials
RNA-based therapies	Uses RNA to influence how genes are expressed	May help manage or modify disease processes	Emerging area of study
Personalised suitability	Depends on gene type, mutation and retinal health	Helps identify who may benefit most	Requires genetic testing and specialist assessment
Clinical trials	Studies new treatments in controlled settings	May provide access to developing therapies	Ongoing in selected centres worldwide
Future outlook	Focus on earlier and more targeted treatment	May improve long-term outcomes	Not yet widely available in routine care

Can Genetics Predict Common Eye Disease?

Common eye conditions such as glaucoma and age-related macular degeneration are influenced by many genetic, health and environmental factors. Researchers can combine numerous genetic variants into a polygenic risk score to estimate how your inherited risk compares with that of other people.

Your score cannot show that you will or will not develop an eye disease. These tools require further assessment across different populations and are not currently replacements for your regular eye examinations or established risk assessment.

Polygenic Risk Scores for Glaucoma

Researchers are evaluating whether polygenic risk scores can help identify groups with a higher or lower inherited likelihood of developing primary open-angle glaucoma. These scores cannot determine whether you personally have or will develop the condition.

Many available studies have involved limited ancestry groups, so their performance may not apply equally across all populations. A polygenic risk score cannot diagnose glaucoma and should not replace eye-pressure measurement, optic-nerve examination, OCT, visual-field testing or other established clinical assessments.

Personalising Glaucoma Monitoring

Your glaucoma follow-up is already personalised using factors such as your eye pressure, corneal thickness, optic-nerve appearance, visual fields, OCT findings and evidence of previous progression.

In the future, your genetic information and AI-based imaging analysis may add to this assessment. Your monitoring or treatment should not currently be changed solely because of a research polygenic risk score.

OCT Biomarkers in Macular Disease

OCT imaging can reveal features such as fluid, retinal thinning, pigment epithelial changes and other structural signs linked to macular disease. These detailed biomarkers help your clinician understand how active your condition is.

By monitoring these changes over time, your ophthalmologist can make more informed decisions about whether your treatment should be started, continued, changed or adjusted according to your individual response.

Personalised Anti-VEGF Treatment

People receiving anti-VEGF injections do not always need treatment at the same interval. Your treatment schedule may be adjusted based on changes in your vision, OCT findings and how your eye responds over time.

• Individual response: Treatment intervals are adjusted depending on how your eye responds to injections
• Vision monitoring: Changes in your sight help guide whether treatment is continued, delayed or brought forward
• OCT guidance: Scan results are used to assess fluid and disease activity in your retina
• Flexible scheduling: Intervals may be extended or shortened rather than following a fixed timetable
• Reduced burden: Personalisation may help avoid unnecessary injections while maintaining disease control

This tailored approach helps your ophthalmologist balance effective treatment with minimising the number of injections you need. Your follow-up plan is based on your individual condition, ensuring care is adapted to your specific needs over time.

Predicting Treatment Response with AI

Researchers are developing AI models that analyse your OCT scans and other clinical information to estimate how a retinal condition might progress or respond to treatment. Some systems can identify or measure features such as retinal fluid and changes in retinal layers.

These predictions are not sufficiently reliable to determine your treatment independently. Your scan quality, other eye conditions and differences between the population used to train the system and your own circumstances can all affect the result.

AI-Supported Diagnosis

A 2025 diagnostic study involved 24 clinicians from 12 institutions assessing 2,880 AMD risk features across images from 240 patients. AI assistance improved grading accuracy for 23 of the 24 clinicians and reduced assessment time among the 19 clinicians with complete timing data.

The clinicians assessed research images from established study datasets rather than using the system as part of routine patient care. Your diagnosis should therefore continue to rely on your clinical history, full eye examination and appropriate imaging rather than this AI model alone.

Diabetic Eye Disease

Precision approaches to diabetic eye disease may combine information from your blood-glucose control, retinal images, OCT findings and wider health factors. By looking at these details together, your ophthalmologist may gain a clearer understanding of your individual risk and disease progression.

Future biomarker and AI models may help identify which people are more likely to develop sight-threatening diabetic retinopathy or respond to specific treatments. However, these tools are still developing and require further validation before becoming part of routine care.

Personalised Corneal Care

Corneal topography and tomography create detailed maps of your cornea’s shape, curvature and thickness. These measurements allow your ophthalmologist to understand your individual eye structure in greater detail.

This information helps personalise decisions such as selecting specialised contact lenses, monitoring conditions like keratoconus and assessing whether procedures such as laser vision correction are suitable for you. Your treatment plan can be based on your specific corneal measurements rather than a standard approach.

Cataract and Refractive Surgery

If you are considering cataract surgery or refractive lens exchange, your surgeon can use measurements such as your eye length, corneal curvature and previous refractive-surgery history to calculate the power of your lens implant. Your visual priorities, existing eye conditions and tolerance of possible optical effects may also influence which type of lens is appropriate for you.

If you are considering laser vision correction or a phakic lens implant, your assessment will involve different measurements and suitability criteria. Your refraction, corneal shape and thickness, ocular-surface health, age and visual needs may all be relevant. Personalised planning can reduce avoidable risk and help align the procedure with your goals, but it cannot guarantee that you will be free from glasses or achieve a particular visual result.

Precision Treatment for Uveitis

Your uveitis treatment should reflect its cause, location, severity and effect on your sight. Your ophthalmologist may need to distinguish infection from immune-mediated inflammation before choosing corticosteroids, immunosuppressive medicines or biological treatment.

Medicine levels and antibodies against biological treatments are being investigated and may be considered in selected specialist cases. These tests are not routinely required for everyone with uveitis, and your results must be interpreted alongside your disease activity, treatment adherence and other clinical findings.

Blood and Tear Biomarkers

Your blood may be tested when your ophthalmologist suspects an infection, inflammatory disease, thyroid disorder or another systemic condition affecting your eyes. These are targeted clinical investigations rather than general precision-medicine screening.

Selected tear tests may already be used as additional tools in some dry-eye assessments. However, broader blood and tear biomarker panels for retinal, optic-nerve and many ocular-surface diseases remain mainly research tools. They should not be used alone to diagnose your condition, predict your treatment response or replace imaging and specialist examination.

What Are the Main Limitations for You?

Your personalised care depends on accurate measurements, reliable laboratory methods and prediction systems that have been validated in people similar to you. A strong result in one research dataset may not transfer successfully to your clinic or individual circumstances.

Your genetic result may be uncertain, and some research populations do not adequately represent different ancestries, ages or health conditions. Cost, access, data protection, algorithmic bias and the possibility of misleading predictions must also be considered before a new approach becomes part of your routine care.

Myth vs Fact

Myth	What You Should Know
Your precision-medicine test will identify the perfect treatment.	Your result may support your care, but it cannot guarantee that a treatment will work for you.
Your genetic test will always identify the cause of an inherited eye condition.	Your test may be negative or identify a variant whose significance for you remains uncertain.
Your polygenic risk score can diagnose glaucoma.	Your score estimates inherited risk and cannot replace your clinical glaucoma tests.
Your OCT result determines your treatment on its own.	Your ophthalmologist should interpret your OCT alongside your vision, symptoms and examination.
Fewer anti-VEGF injections are always better for you.	Your interval must continue to control your disease and avoid undertreatment.
Your AI result is more reliable than your ophthalmologist.	Your result may support clinical assessment but can also be affected by bias, image quality and limited validation.
Your blood or tears can already identify most eye diseases.	Most emerging eye biomarker panels remain research tools.
Precision medicine means you no longer follow clinical guidance.	Your personalised care should remain based on established evidence and safe clinical pathways.

Key Takeaways

• Your eye care is already personalised using your examination, imaging, health and treatment response.
• Your genetic test may help confirm an inherited retinal diagnosis and explain how it could affect your family.
• Your eligibility for a gene-specific treatment depends on the gene involved and the health of your remaining retinal cells.
• Your glaucoma monitoring should still rely on established clinical tests rather than a polygenic risk score alone.
• Your OCT findings can help guide retinal treatment, but they must be interpreted alongside your vision and examination.
• Your anti-VEGF treatment interval may be adjusted according to how your eye responds.
• Your AI-assisted assessment still requires clinical interpretation and appropriately validated technology.
• Your blood or tear biomarkers are unlikely to replace your eye examination or imaging.
• Your genetic and clinical information must be protected and interpreted carefully.
• Your personalised treatment should remain based on reliable evidence rather than technology alone.

Frequently Asked Questions

1. What is precision medicine in ophthalmology?
   Precision medicine uses information about your eye condition, imaging, general health, genes and previous treatment response to help tailor your diagnosis, monitoring or treatment. Your care should still follow reliable clinical evidence and guidance.
2. Why is ophthalmology suitable for precision medicine?
   Your eye can be measured in detail using tests such as OCT, retinal photography, corneal imaging and visual fields. Repeating these measurements can help your ophthalmologist understand how your condition is changing and how you are responding to treatment.
3. How can genetic testing help with your eye condition?
   Your genetic test may confirm or refine an inherited retinal diagnosis, explain how your condition could affect your family and identify whether a gene-specific treatment or trial may be relevant. Your test may also be negative or produce an uncertain result.
4. Can genetics predict your risk of developing an eye disease?
   Your genetic information may contribute to an estimate of your risk for conditions such as glaucoma or AMD. It cannot show with certainty whether you will develop the condition and does not replace your regular eye examinations.
5. How can your glaucoma care be personalised?
   Your ophthalmologist can consider your eye pressure, corneal thickness, optic-nerve appearance, visual fields, OCT findings and previous progression when deciding how often you need monitoring and whether your treatment should change.
6. How does OCT support your personalised retinal treatment?
   Your OCT can show features such as retinal fluid, thinning and changes affecting the retinal pigment epithelium. Your ophthalmologist can use these findings alongside your vision and examination to assess disease activity and guide your treatment.
7. Can precision medicine improve your AMD treatment?
   Your anti-VEGF injection interval may be adjusted according to your vision, OCT findings and previous response. Your treatment should aim to maintain disease control rather than simply reduce the number of injections you receive.
8. How could artificial intelligence support your eye care?
   AI may help analyse your scans, measure disease features or highlight findings requiring review. Your results still require appropriate validation and clinical interpretation and should not replace your ophthalmologist’s judgement.
9. Can precision medicine help if you have an inherited retinal condition?
   Yes. Your genetic result may clarify your diagnosis, inheritance and possible eligibility for a gene-specific treatment or clinical trial. Only a limited number of approved gene therapies are currently available.
10. What are the limitations of precision medicine in your eye care?
    Your results can be affected by uncertain genetic findings, incomplete data, population bias, cost, privacy concerns and limited external validation. Many precision-medicine technologies remain investigational and cannot yet guide your care independently.

Final Thoughts: The Future of Precision Medicine in Ophthalmology

Precision medicine is changing the way eye conditions are understood by combining genetic information, advanced imaging, biomarkers and individual treatment responses. These developments aim to move eye care towards more personalised decisions that consider your unique eye health rather than relying on a one-size-fits-all approach.

Although many precision medicine techniques are still being researched, some are already helping guide care for inherited retinal diseases and complex eye conditions. As technology continues to improve, these approaches may support earlier detection, more accurate monitoring and treatments that are increasingly tailored to your individual needs.

If you would like to discuss your eye health concerns with an experienced specialist, contact us at Eye Clinic London to arrange a comprehensive eye assessment.

References

1. Busto-Iglesias, M., Rodríguez-Martínez, L., Rodríguez-Fernández, C.A., González-López, J., González-Barcia, M., de Domingo, B., Rodríguez-Rodríguez, L., Fernández-Ferreiro, A. and Mondelo-García, C. (2023) ‘Perspectives of therapeutic drug monitoring of biological agents in non-infectious uveitis treatment: a review’, Pharmaceutics, 15(3), article 766. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC10051556/
2. Chen, Q. et al. (2025) ‘AI workflow, external validation, and development in eye disease diagnosis’, JAMA Network Open, 8(7), article e2517204. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC12268484/
3. National Institute for Health and Care Excellence (2019) Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations. Highly specialised technologies guidance HST11. Available at: https://www.nice.org.uk/guidance/hst11
4. NHS England (2026a) National genomic test directory for rare and inherited disease. Version 9, published 8 April 2026; eligibility criteria version 9.1, updated 20 May 2026. Available at: https://www.england.nhs.uk/publication/national-genomic-test-directories/
5. NHS England (2026b) Commissioning recommendations for medical retinal vascular medicines following the national procurement for anti-vascular endothelial growth factors and intravitreal steroid implants. Published 11 March 2026 and updated 16 March 2026. Available at: https://www.england.nhs.uk/long-read/commissioning-recommendations-for-medical-retinal-vascular-medicines-following-the-national-procurement-for-anti-vascular-endothelial-growth-factors-vegfs-and-intravitreal-steroid-implants/