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.

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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

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article

Mendelian randomisation in ophthalmology: An overview and practical guide for clinicians

Kelsey V. Stuart, Anthony P. Khawaja, Alasdair Warwick, Skanda Rajasundaram et al.
European Journal of Ophthalmology
Ophthalmology and Visual Impairment Studies
article

Mendelian randomisation in ophthalmology: An overview and practical guide for clinicians

Kelsey V. Stuart, Anthony P. Khawaja, Alasdair Warwick, Skanda Rajasundaram, Claudia Liang Peng
article en

Abstract

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.

European Journal of Ophthalmology
University College Lahore (PK)
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
Good health and well-being
Openalex Percentile: Top 7%
Ophthalmology and Visual Impairment Studies
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