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Down syndrome and autoimmune eye disease

Eye volume 38, pages 1024–1025 (2024)Cite this article

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We read with great interest the recent publication on characterising autoimmune eye disease in Down syndrome (DS) [1]. People with DS are disproportionately affected with autoimmune diseases including, but not limited to, thyroid dysfunction, coeliac disease, and inflammatory arthritis [1]. While several ocular manifestations have been studied in DS, studies characterising uveitis in this population are limited.

In our recent study on keratoconus in DS [2], we observed only one case of uveitis in 190 individuals with DS. This translates to a prevalence of 0.53% (95% CI 0.07–3.72%). However, this is still 10x the prevalence of uveitis reported within the general population [3]. Among our cohort of participants with DS, self-reported autoimmune related conditions are outlined in Table 1. In this series, hypothyroid, coeliac disease and psoriasis were the most commonly reported autoimmune related diseases. Eight participants with DS were affected by ≥2 conditions outlined in Table 1. Interestingly, the proportion of DS affected by these conditions was greater than the previously reported proportions in the general population, i.e., 3.0% hypothyroid, 1.9% coeliac disease and 1.5% psoriasis in the general population [4].

Table 1 Self-reported autoimmune disease in Down syndrome (DS), N (participants) = 190.
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All data generated or analysed during this study are included in this published article.

References

  1. Zaki AM, Pasadhika S, Huang JC, Thomas AS, Burkholder BM, Lim LL, et al. Characterization of autoimmune eye disease in association with Down’s syndrome. Eye. 2023. https://doi.org/10.1038/s41433-023-02706-6.

  2. Mathan J. Keratoconus in Down syndrome: prevalence, assessment, visual disability, quality of life and corneal cross linking [dissertation]. University of Auckland; 2022:101–39.

  3. Acharya NR, Tham VM, Esterberg E, Borkar DS, Parker JV, Vinoya AC, et al. Incidence and prevalence of uveitis: results from the Pacific Ocular Inflammation Study. JAMA Ophthalmol. 2013;131:1405–12.

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  4. Cooper GS, Bynum ML, Somers EC. Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J Autoimmun. 2009;33:197–207.

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  5. Miller FW. The increasing prevalence of autoimmunity and autoimmune diseases: an urgent call to action for improved understanding, diagnosis, treatment, and prevention. Curr Opin Immunol. 2023;80:102266.

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Funding

Joyce Mathan’s PhD was funded by: Auckland Medical Research Foundation Doctoral Scholarship, Save Sight Society Grant, Heather Mackintosh Research Scholarship, and New Zealand Association of Optometrists Postgraduate Scholarship. The funding organisations had no role in the design or conduct of the research.

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Authors and Affiliations

  1. Department of Ophthalmology, University of Auckland, Auckland, New Zealand

    Joyce J. Mathan, Akilesh Gokul, Rachael L. Niederer & Charles N. J. McGhee

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  1. Joyce J. Mathan
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  2. Akilesh Gokul
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  3. Rachael L. Niederer
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  4. Charles N. J. McGhee
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All authors contributed equally to this work.

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Correspondence to Charles N. J. McGhee.

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Health and Disability Ethics Committees (18/NTA/192). The tenets of the Declaration of Helsinki were adhered to.

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Mathan, J.J., Gokul, A., Niederer, R.L. et al. Down syndrome and autoimmune eye disease. Eye 38, 1024–1025 (2024). https://doi.org/10.1038/s41433-023-02808-1

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