International Journal of Keratoconus and Ectatic Corneal Diseases

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VOLUME 11 , ISSUE 1 ( January-December, 2024 ) > List of Articles

CASE REPORT

Hydrops as a Presenting Sign of Keratoconus in Down Syndrome: Case Report, Literature Review, and the Need for a Public Health Strategy

Adel Barbara, Cosimo Mazzotta, Mazen Sinjab, Ramez Barbara

Keywords : Case report, Central corneal thickness, Cornea, Down syndrome, Genetics, Keratoconus

Citation Information : Barbara A, Mazzotta C, Sinjab M, Barbara R. Hydrops as a Presenting Sign of Keratoconus in Down Syndrome: Case Report, Literature Review, and the Need for a Public Health Strategy. Int J Kerat Ect Cor Dis 2024; 11 (1):1-4.

DOI: 10.5005/jp-journals-10025-1205

License: CC BY-NC 4.0

Published Online: 07-03-2025

Copyright Statement:  Copyright © 2025; The Author(s).


Abstract

This case study highlights a 12-year-old male with Down syndrome (DS) presenting with hydrops as the initial sign of keratoconus in the left eye and concurrent keratoconus in the right eye. The discussion stresses the frequent occurrence of keratoconus among individuals with DS, emphasizing the significance of early diagnosis and treatment. Furthermore, the discussion proposes a plan for a comprehensive public health strategy to address the unique challenges associated with keratoconus in this population.


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  1. Kennedy RH, Bourne WM, Dyer JA. A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 1986;101:267–273. DOI: 10.1016/0002-9394(86)90817-2.
  2. Godefrooij DA, de Wit GA, Uiterwaal CS, et al. Age-specific incidence and prevalence of keratoconus: A nationwide registration study. Am J Ophthalmol 2017;175:169–172. DOI: 10.1016/j.ajo.2016.12.015.
  3. Torres Netto EA, Al-Qtaidi WM, Hafezi NL, et al. Prevalence of keratoconus in paediatric patients in Riyadh, Saudi Arabia. Br J Ophthalmol 2018;102:1436–1441. DOI: 10.1136/bjophthalmol-2017-311391.
  4. Millodot M, Shneor E, Albou S, et al. Prevalence and associated factors of keratoconus in Jerusalem: A cross-sectional study. Ophthalmic Epidemiol. 2011;18:91–97.
  5. Shneor E, Millodot M, Gordon-Shaag A, et al. Prevalence of keratoconus among young arab students in Israe. Int. J. Keratoconus Ectatic Corneal Dis 2014;3:9–14. DOI: 10.5005/jp-journals-10025- 1070.
  6. Jonas JB, Nangia V, Matin A, et al. Prevalence and associations of keratoconus in rural Maharashtra in Central India: The Central India eye and medical study. Am J Ophthalmol 2009;148:760–765.
  7. Nielsen K, Hjortdal J, Nohr EA, et al. Incidence and prevalence of keratoconus in Denmark. Acta Ophthalmol Scand 2007;85:890–892.
  8. Gorskova EN, Sevost'ianov EN. Epidemiology of keratoconus in the Urals. Vestn Oftalmol 1998;114:38–40.
  9. Cullen JF, Butler HG. Mongolism (down's syndrome) and keratoconus. Br J Ophthalmol 1963;47:321–330. DOI: 10.1136/bjo.47.6.321.
  10. Akoto T, Li JJ, Estes AJ, et al. The underlying relationship between keratoconus and down syndrome. Int J Mol Sci 2022;23:10796. DOI: 10.3390/ijms231810796.
  11. Kristianslund O, Drolsum L. Prevalence of keratoconus in persons with Down syndrome: A review. BMJ Open Ophthalmol 2021;6:754. DOI: 10.1136/bmjophth-2021-000754.
  12. Kristianslund O, Drolsum L. Prevalence of keratoconus in persons with down syndrome in a national registry in Norway. JAMA Netw Open 2021;4(3):e210814. DOI: 10.1001/jamanetworkopen.2021. 0814.
  13. Alio JL, Vega-Estrada A, Sanz P, et al. Corneal morphologic characteristics in patients with down syndrome. JAMA Ophthalmol 2018;136:971. DOI: 10.1001/jamaophthalmol.2018.2373.
  14. Aslan L, Aslankurt M, Yüksel E, et al. Corneal thickness measured by Scheimpflug imaging in children with Down syndrome. J AAPOS Off Publ Am Assoc Pediatr Ophthalmol Strabismus 2013;17:149–152. DOI: 10.1016/j.jaapos.2012.10.020.
  15. Al-Mahrouqi, Haitham, Saif Bani Oraba, et al. Retinoscopy as a screening tool for keratoconus. Cornea 2019;38(4):442–445. DOI: 10.1097/ICO.0000000000001843.
  16. Sun E, Kraus CL. The ophthalmic manifestations of down syndrome. Children 2023;10:341.
  17. Kristianslund O, Drolsum L. Prevalence of keratoconus in persons with Down syndrome: A review. BMJ Open Ophthalmol 2021;6:e000754. DOI: 10.1136/bmjophth-2021-000754.
  18. Hawkes E, Nanavaty MA. Eye rubbing and keratoconus: A literature review. Cor Dis 2014;3:118–121. DOI: 10.5005/jp-journals-10025-1090.
  19. Gatinel D. Eye rubbing, a Sine Qua Non for keratoconus? Int J Keratoconus Ectatic Corneal Dis 2016;5(1):6–12. DOI: 10.5005/jp-journals-10025-1114.
  20. Wollensak G, Spörl E, Seiler T. Treatment of keratoconus by collagen cross linking. Ophthalmologe 2023;100:44–49. DOI: 10.1007/s00347-002-0700-3.
  21. Caporossi A, Mazzotta C, Baiocchi S, et al. Long-term results of riboflavin ultraviolet a corneal collagen cross-linking for keratoconus in Italy: The Siena eye cross study. Am J Ophthalmol 2010;149:585–593. DOI: 10.1016/j.ajo.2009.10.021.
  22. Raiskup F, Herber R, Lenk J, et al. Corneal crosslinking with riboflavin and UVA light in progressive keratoconus: Fifteen-year results. Am J Ophthalmol 2023;250:95–102. DOI: 10.1016/j.ajo.2023.01.022.
  23. Raiskup F, Hillen M. Corneal cross-linking can halt the progression of keratoconus, but what is the best approach. Int J. Keratoconus Ectatic Corneal Dis 2015;4(2):47–51. DOI: 10.5005/jp-journals-10025-1097.
  24. Barbara R, Pikkel J, Garzozi H, et al. Collagen cross-linking and keratoconus in pediatric patients. Int J Keratoconus Ectatic Corneal Dis 2012;11:57–60. DOI: 10.5005/jp-journals-10025-1010.
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