Mendelian randomisation in ophthalmology: An overview and practical guide for clinicians
Mendelian randomisation (MR) is an epidemiological approach that leverages natural genetic variation to strengthen causal inference. When applied rigorously and interpreted within a broader framework of evidence, it offers a powerful tool to advance understanding and inform clinical translation. However, misuse or misinterpretation of the technique is increasingly common and risks introducing spurious or implausible findings into the scientific literature. Violation of core underlying assumptions and lack of clear gene-environment equivalence often negates meaningful clinical translation, and overreliance on MR results without triangulation with other lines of evidence may lead to misleading causal claims. As the use of MR continues to expand within ophthalmic research, it is increasingly important for clinicians and researchers to be equipped to critically appraise and interpret such studies.
Authors
- Kelsey V. Stuart (ORCID: https://orcid.org/0000-0001-7353-8774)
- Anthony P. Khawaja (ORCID: https://orcid.org/0000-0001-6802-8585)
- Alasdair Warwick (ORCID: https://orcid.org/0000-0002-0800-2890)
- Skanda Rajasundaram (ORCID: https://orcid.org/0009-0005-4447-3437)
- Claudia Liang Peng
Institutions
- University College Lahore (PK)
Publication Details
- Journal
- European Journal of Ophthalmology
- Published
- 2026-06-29
- DOI
- https://doi.org/10.1177/11206721261461915
- Primary Topic
- Ophthalmology and Visual Impairment Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- UK Research and Innovation
- Fight for Sight UK
- Lister Institute of Preventive Medicine
- Moorfields Eye Charity
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology