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  3. The Eye and Vision in Individuals with Trisomy 21
Medical and paramedical



The Eye and Vision


With an overall prevalence of over 80%, higher than that of the neurotypical population, ophthalmological pathologies are the most widespread comorbidities in adults with trisomy 21.


In this video and the fact sheet below, Dr. Hervé Walti, pediatrician at the Institut Jérôme Lejeune, explains the importance of ophthalmological pathologies in people with Down’s syndrome, and the need for optimal correction from an early age. Several chapters will be presented, and you can now find them by following the map on the right of this article.

Discover below the presentation associated with this video on the subject of “Ophthalmological pathologies”.

  • American Academy of Pediatrics; Section on Ophthalmology; American Association for Pediatric Ophthalmology And Strabismus; American Academy of Ophthalmology; American Association of Certified Orthoptists. Red reflex examination in neonates, infants, and children. Pediatrics. 2008 Dec;122(6):1401-4. Erratum in: Pediatrics. 2009 Apr;123(4):1254.
  • Alexander M, Petri H, Ding Y, Wandel C, Khwaja O, Foskett N. Morbidity and medication in a large population of individuals with Down syndrome compared to the general population. Dev Med Child Neurol. 2016 Mar;58(3):246-54.
  • Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 May 1;149(5).
  • Carfì A, Romano A, Zaccaria G, Villani ER, Manes Gravina E, Vetrano DL, Bernabei R, Onder G. The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndrome. Am J Med Genet A. 2020 Jul;182(7):1735-1743.
  • Chicoine B, Rivelli A, Fitzpatrick V, Chicoine L, Jia G, Rzhetsky A. Prevalence of Common Disease Conditions in a Large Cohort of Individuals With Down Syndrome in the United States. J Patient Cent Res Rev. 2021 Apr 19;8(2):86-97.
  • Creavin AL, Brown RD. Ophthalmic assessment of children with down syndrome: is England doing its bit? Strabismus. 2010 Dec;18(4):142-5.
  • Donahue SP, Nixon CN; Section on Opthamology, American Academy of Pediatrics; Committee on Practice and Ambulatory Medicine, American Academy of Pediatrics; American Academy of Ophthalmology; American Association for Pediatric Ophthalmology and Strabismus; American Association of Certified Orthoptists. Visual System Assessment in Infants, Children, and Young Adults by Pediatricians. Pediatrics. 2016 Jan;137(1):28-30.
  • ©DSMIG(UK) 2012 www.dsmig.org.uk
  • Evenhuis HM, Sjoukes L, Koot HM, Kooijman AC. Does visual impairment lead to additional disability in adults with intellectual disabilities? J Intellect Disabil Res. 2009 Jan;53(1):19-28.
  • Fong AH, Shum J, Ng AL, Li KK, McGhee S, Wong D. Prevalence of ocular abnormalities in adults with Down syndrome in Hong Kong. Br J Ophthalmol. 2013 Apr;97(4):423-8.
  • Haymes SA, Johnston AW, Heyes AD. Relationship between vision impairment and ability to perform activities of daily living. Ophthalmic Physiol Opt. 2002 Mar;22(2):79-91.
  • Haseeb A, Huynh E, ElSheikh RH, ElHawary AS, Scelfo C, Ledoux DM, Maidana DE, Elhusseiny AM. Down syndrome: a review of ocular manifestations. Ther Adv Ophthalmol. 2022 Jun 30;14:25158414221101718.
  • Haugen OH, Høvding G, Lundström I. Refractive development in children with Down’s syndrome: a population based, longitudinal study. Br J Ophthalmol. 2001 Jun;85(6):714-9.
  • Haugen OH, Høvding G. Strabismus and binocular function in children with Down syndrome. A population-based, longitudinal study. Acta Ophthalmol Scand. 2001 Apr;79(2):133-9.
  • Kong AM, Hurley D, Evans KA, Brixner D, Csoboth C, Visootsak J. A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome. J Manag Care Spec Pharm. 2017 Jul;23(7):761-770.
  • Krinsky-McHale SJ, Jenkins EC, Zigman WB, Silverman W. Ophthalmic disorders in adults with down syndrome. Curr Gerontol Geriatr Res. 2012;2012:974253.
  • Mathan JJ, Simkin SK, Gokul A, McGhee CNJ. Down syndrome and the eye: Ocular characteristics and ocular assessment. Surv Ophthalmol. 2022 Apr 1:S0039-6257(22)00043-1.
  • Muñoz-Ortiz J, Charry-Sánchez JD, Bechara-Arango I, Blanco-Becerra M, Talero-Gutiérrez C, Gomez-Suarez M, de-la-Torre A. Prevalence of ophthalmological manifestations in pediatric and adolescent populations with Down syndrome: a systematic review of the literature. Syst Rev. 2022 Apr 22;11(1):75.
  • Pikora TJ, Bourke J, Bathgate K, Foley KR, Lennox N, Leonard H. Health conditions and their impact among adolescents and young adults with Down syndrome. PLoS One. 2014 May 12;9(5):e96868.
  • Protocole National de Diagnostic et de Soins (PNDS) trisomie 21 , HAS 2020
  • Postolache L, Monier A, Lhoir S. Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives. Eye Brain. 2021 Jul 21;13:193-203.
  • Toli A, Perente A, Labiris G. Evaluation of the red reflex: An overview for the pediatrician. World J Methodol. 2021 Sep 20;11(5):263-277.
  • Robinson J, Pompe MT, Gerth-Kahlert C. Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations. J Ophthalmol. 2021 May 26;2021:8870680.
  • Rodríguez-Hernández ML, Montoya E. Fifty years of evolution of the term Down’s syndrome. Lancet. 2011 Jul 30;378(9789):402.
  • Startin CM, D’Souza H, Ball G, Hamburg S, Hithersay R, Hughes KMO, Massand E, Karmiloff-Smith A, Thomas MSC; LonDownS Consortium, Strydom A. Health comorbidities and cognitive abilities across the lifespan in Down syndrome. J Neurodev Disord. 2020 Jan 23;12(1):4.
  • Ugurlu A, Altinkurt E. Ophthalmologic Manifestations and Retinal Findings in Children with Down Syndrome. J Ophthalmol. 2020 Feb 7;2020:9726261.
  • Umfress AC, Hair CD, Donahue SP. Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21. Am J Ophthalmol. 2019 Nov;207:373-377.
  • Watt T, Robertson K, Jacobs RJ. Refractive error, binocular vision and accommodation of children with Down syndrome. Clin Exp Optom. 2015 Jan;98(1):3-11.
  • de Weger C, Boonstra FN, Goossens J. Differences between children with Down syndrome and typically developing children in adaptive behaviour, executive functions and visual acuity. Sci Rep. 2021a Apr 7;11(1):7602.
  • de Weger C, Boonstra FN, Goossens J. One-year effects of bifocal and unifocal glasses on executive functions in children with Down syndrome in a randomized controlled trial. Sci Rep. 2021b Aug 19;11(1):16893.
  • Wilton GJ, Woodhouse R, Vinuela-Navarro V, England R, Woodhouse JM. Behavioural Features of Cerebral Visual Impairment Are Common in Children With Down Syndrome. Front Hum Neurosci. 2021 Jun 14;15:673342.
  • Yanovitch T, Wallace DK, Freedman SF, Enyedi LB, Kishnani P, Worley G, Crissman B, Burner E, Young TL. The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome. J AAPOS. 2010 Dec;14(6):472-7.

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