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  3. Posterior segment eye diseases in individuals with trisomy 21
Medical and paramedical

OPHTHALMOLOGICAL PATHOLOGIES

 

Posterior segment eye diseases

Although not specific to Trisomy 21, certain pathologies of the posterior segment of the eye are more frequently associated with people with Trisomy 21 than with the neurotypical population. They fall into two categories: retinal anomalies and pathologies, and optic nerve pathologies.

 

Find out more about their characteristics and the recommendations for their management from Dr. Hervé Walti, pediatrician at the Institut Jérôme Lejeune, in the video and accompanying fact sheet. For the full chapter, click on the links on the right of the page.

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

  • Ahmad A, Pruett RC. The fundus in mongolism. Arch Ophthalmol. 1976 May;94(5):772-6.
  • AlAhmadi BO, Alsulaiman SM, Arevalo JF. Retinal Detachment in Down Syndrome: Characteristics and Surgical Outcomes. J Ophthalmol. 2016;2016:6971591.
  • Al-Hemidan AI, Al-Hazzaa SA, Chavis P, Al-Hussein H. Optic disc elevation in Down syndrome. Ophthalmic Genet. 1999 Mar;20(1):45-51.
  • Aziz HA, Ruggeri M, Berrocal AM. Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. J Pediatr Ophthalmol Strabismus. 2011 Jul 19;48 Online:e37-9.
  • Brichard B, Vermylen C, De Potter P, Casteels I. Down syndrome: possible predisposition to retinoblastoma. Med Pediatr Oncol. 2003 Jul;41(1):73-4.
  • Catalano RA, Simon JW. Optic disk elevation in Down’s syndrome. Am J Ophthalmol. 1990 Jul 15;110(1):28-32.
  • Csincsik L, Nelson R, Walpert MJ, Peto T, Holland A, Lengyel I. Increased choroidal thickness in adults with Down syndrome. Alzheimers Dement (Amst). 2021 Mar 17;13(1):e12170.
  • da Cunha RP, Moreira JB. Ocular findings in Down’s syndrome. Am J Ophthalmol. 1996 Aug;122(2):236-44.
  • Esmaili N, Bradfield YS. Pseudotumor cerebri in children with Down syndrome. Ophthalmology. 2007 Sep;114(9):1773-8
  • Fimiani F, Iovine A, Carelli R, Pansini M, Sebastio G, Magli A. Incidence of ocular pathologies in Italian children with Down syndrome. Eur J Ophthalmol. 2007 Sep-Oct;17(5):817-22.
  • 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.
  • Fuerst PG, Koizumi A, Masland RH, Burgess RW. Neurite arborization and mosaic spacing in the mouse retina require DSCAM. Nature. 2008 Jan 24;451(7177):470-4.
  • Fulcher T, Griffin M, Crowley S, Firth R, Acheson R, O’Meara N. Diabetic retinopathy in Down’s syndrome. Br J Ophthalmol. 1998 Apr;82(4):407-9.
  • Gardiner C, Lanigan B, O’Keefe M. Postcataract surgery outcome in a series of infants and children with Down syndrome. Br J Ophthalmol. 2008 Aug;92(8):1112-6.
  • 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.
  • Heindl LM, Naumann GO, Kruse FE, Holbach LM. Aggressive metastasising adenocarcinoma of the retinal pigment epithelium with trisomy 21. Br J Ophthalmol. 2008 Mar;92(3):389-91.
  • Jaeger EA. Ocular findings in Down’s syndrome. Trans Am Ophthalmol Soc. 1980;78:808-45.
  • Krinsky-McHale SJ, Silverman W, Gordon J, Devenny DA, Oley N, Abramov I. Vision deficits in adults with Down syndrome. J Appl Res Intellect Disabil. 2014 May;27(3):247-63.
  • Laguna A, Barallobre MJ, Marchena MÁ, Mateus C, Ramírez E, Martínez-Cue C, Delabar JM, Castelo-Branco M, de la Villa P, Arbonés ML. Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. Hum Mol Genet. 2013 Jul 15;22(14):2775-84.
  • Le Grignou M, Bleriot A, Nizon M, Pacquement H, Houdayer C, Thebaud E, Le Meur G, Isidor B. Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. Ophthalmic Genet. 2019 Feb;40(1):86.
  • Liza-Sharmini AT, Azlan ZN, Zilfalil BA. Ocular findings in Malaysian children with Down syndrome. Singapore Med J. 2006 Jan;47(1):14-9.
  • Mangalesh S, Vinekar A, Jayadev C, Kemmanu V, Bhat M, Sivakumar M, Bauer N, Webers C, Shetty B. Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome. Curr Eye Res. 2019 Aug;44(8):901-907.
  • Moll AC, Imhof SM, Bleeker-Wagemakers EM, Den Otter W, Bouter LM, Koten JW, Tan KE. Prevalence of mental retardation in patients with hereditary retinoblastoma. Ophthalmic Genet. 1997 Dec;18(4):217-20.
  • Moll A, Imhof SM, Bouter L, den Otter W, Koten JW. An infant with Down syndrome and retinoblastoma. A possible non-fortuitous association. Ophthalmic Genet. 2002 Jun;23(2):135-6.
  • Muñoz-Ortiz J, Charry-Sánchez JD, Bechara-Arango I, Blanco-Becerra M, Talero-Gutiérrez C, Gomez-Suarez M, de-la-Torre A. Down syndrome: a systematic review Prevalence of ophthalmological manifestations in pediatric and adolescent populations with of the literature. Syst Rev. 2022 Apr 22;11(1):75.
  • Nicholson R, Osborne D, Fairhead L, Beed L, Hill CM, Lee H. Segmentation of the foveal and parafoveal retinal architecture using handheld spectral-domain optical coherence tomography in children with Down syndrome. Eye (Lond). 2022 Jan 10.
  • O’Brien S, Wang J, Smith HA, Donaldson DL, Haider KM, Roberts GJ, Sprunger DT, Neely DE, Plager DA. Macular structural characteristics in children with Down syndrome. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2317-23.
  • Parsa CF, Almer Z. Supranumerary optic disc vessels may indicate reduced systemic angiogenesis in Down syndrome. Br J Ophthalmol. 2008 Mar;92(3):432-3.
  • Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer. 2006 Apr 1;118(7):1769-72.
  • Panagopoulos A, Chalioulias K, Murray AT. Bilateral congenital hamartomas of the retinal pigment epithelium in a patient with Down’s syndrome. Eye (Lond). 2008 May;22(5):735-6.
  • Postolache L. Abnormalities of the Optic Nerve in Down Syndrome and Associations With Visual Acuity. Front Neurol. 2019 Jun 14;10:633.
  • Postolache L, De Jong C, Casimir G. Illustration of tessellation in Down syndrome. Ophthalmic Genet. 2020 Apr;41(2):135-145.
  • Postolache L, Monier A, Lhoir S. Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives. Eye Brain. 2021 Jul 21;13:193-203.
  • Santoro SL, Atoum D, Hufnagel RB, Motley WW. Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts. SAGE Open Med. 2017 Jun 19;5:2050312117715583.
  • Satgé D, Gembara P, Sasco AJ, Francannet C, Desjardins L, Vekemans M, Demeocq F. An infant with Down syndrome and retinoblastoma. A possible non-fortuitous association. Ophthalmic Genet. 2001 Jun;22(2):117-23.
  • Satgè D, Schorderet DF, Balmer A, Beck-Popovic M, Addor MC, Beckmann JS, Munier FL. Association Down syndrome-retinoblastoma: a new observation. Ophthalmic Genet. 2005 Sep;26(3):151-2.
  • Schneier AJ, Heidary G, Ledoux DM. Optic nerve appearance in patients with Down syndrome. J Pediatr Ophthalmol Strabismus. 2013 Jan-Feb;50(1):60.
  • Sherk MC, Williams TD. Disc vascularity in Down’s syndrome. Am J Optom Physiol Opt. 1979 Aug;56(8):509-11.
  • Tătaru CI, Voinea LM, Tătaru CP, Sima G. Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome. Rom J Ophthalmol. 2020 Apr-Jun;64(2):168-175.
  • Terai T, Eda S, Sugasawa J, Tonari M, Matsuo J, Oku H, Ikeda T. Ocular findings in Japanese children with Down syndrome: the course of visual acuity and refraction, and systemic and ocular anomalies. Clin Ophthalmol. 2018 Aug 31;12:16.
  • Ugurlu A, Altinkurt E. Ophthalmologic Manifestations and Retinal Findings in Children with Down Syndrome. J Ophthalmol. 2020 Feb 7;2020:9726261. 37-1643.
  • Walpert MJ, Normando EM, Annus T, Jennings SR, Wilson LR, Watson P, Zaman SH, Cordeiro MF, Holland AJ. Age-related retinal thickness in Down’s syndrome: A high-risk population for dementia. Alzheimers Dement (Amst). 2019 Nov 5;11:744-751.
  • Williams EJ, McCormick AQ, Tischler B. Retinal vessels in Down’s syndrome. Arch Ophthalmol. 1973 Apr;89(4):269-71.
  • Yonemoto Y, Morishita S, Fukumoto M, Mimura M, Sato T, Kida T, Kojima S, Oku H, Sugasawa J, Ikeda T. Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report. Medicine (Baltimore). 2018 Jun;97(22):e10896.

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