Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives

Overview

Journal Eye Brain

Publisher Dove Medical Press

Date 2021 Jul 29

PMID 34321946

Citations 4

Authors

Lavinia Postolache

Anne Monier

Sophie Lhoir

Affiliations

Soon will be listed here.

Abstract

Down syndrome, caused by an extra copy of all or part of chromosome 21, is the most prevalent intellectual disability of genetic origin. Among numerous comorbidities which are part of the phenotype of individuals with Down syndrome, ocular problems appear to be highly prevalent. Neuro-ophthalmological manifestations, such as ocular alignment and motility disturbances, amblyopia, hypoaccommodation or optic nerve abnormalities, and other organic ocular anomalies frequently reported in Down syndrome, may lead to an overall decrease in visual acuity. Although numerous studies have reported ocular anomalies related to Down syndrome, it remains challenging to determine the impact of each anomaly upon the decreased visual acuity, as most such individuals have more than one ocular problem. Even in children with Down syndrome and no apparent ocular defect, visual acuity has been found to be reduced compared with typically developing children. Pediatric ophthalmological examination is a critical component of a multidisciplinary approach to prevent and treat ocular complications and improve the visual outcome in children with Down syndrome. This narrative review aims to provide a better understanding of the neuro-ophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.

Citing Articles

Association of plasma neurofilament light chain with microstructural white matter changes in Down syndrome.

Rosas H, Mercaldo N, Hasimoglu Y, Petersen M, Lewis L, Lai F Alzheimers Dement (Amst). 2024; 16(4):e70023.

PMID: 39583646 PMC: 11582681. DOI: 10.1002/dad2.70023.

Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.

Peterson J, Clarke S, Gelb B, Kasparian N, Kazazian V, Pieciak K J Am Heart Assoc. 2024; 13(19):e036214.

PMID: 39263820 PMC: 11681493. DOI: 10.1161/JAHA.124.036214.

Vision Impairments in Young Adults with Down Syndrome.

Martin-Perez Y, Gonzalez-Montero G, Gutierrez-Hernandez A, Blazquez-Sanchez V, Sanchez-Ramos C Vision (Basel). 2023; 7(3).

PMID: 37756134 PMC: 10536554. DOI: 10.3390/vision7030060.

Down syndrome: a review of ocular manifestations.

Haseeb A, Huynh E, ElSheikh R, ElHawary A, Scelfo C, Ledoux D Ther Adv Ophthalmol. 2022; 14:25158414221101718.

PMID: 35795721 PMC: 9252013. DOI: 10.1177/25158414221101718.

References

Jonakin W, Hensley M . Optic glioma and Down's syndrome. J Am Osteopath Assoc. 1983; 82(11):806. View

Roizen N, Mets M, Blondis T . Ophthalmic disorders in children with Down syndrome. Dev Med Child Neurol. 1994; 36(7):594-600. DOI: 10.1111/j.1469-8749.1994.tb11896.x. View

Kim U, Hwang J . Refractive errors and strabismus in Asian patients with Down syndrome. Eye (Lond). 2008; 23(7):1560-4. DOI: 10.1038/eye.2008.309. View

Laguna A, Barallobre M, Marchena M, Mateus C, Ramirez E, Martinez-Cue C . Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. Hum Mol Genet. 2013; 22(14):2775-84. DOI: 10.1093/hmg/ddt125. View

Purpura G, Bacci G, Bargagna S, Cioni G, Caputo R, Tinelli F . Visual assessment in Down Syndrome: The relevance of early visual functions. Early Hum Dev. 2019; 131:21-28. DOI: 10.1016/j.earlhumdev.2019.01.020. View

Antonarakis S . Down syndrome and the complexity of genome dosage imbalance. Nat Rev Genet. 2016; 18(3):147-163. DOI: 10.1038/nrg.2016.154. View

Zahidi A, Vinuela-Navarro V, Woodhouse J . Different visual development: norms for visual acuity in children with Down's syndrome. Clin Exp Optom. 2018; 101(4):535-540. DOI: 10.1111/cxo.12684. View

Ljubic A, Antonela L, Trajkovski V, Vladimir T . Refractive errors in children and young adults with Down's syndrome. Acta Ophthalmol. 2009; 89(4):324-7. DOI: 10.1111/j.1755-3768.2009.01676.x. View

Creavin A, Brown R . Ophthalmic abnormalities in children with Down syndrome. J Pediatr Ophthalmol Strabismus. 2009; 46(2):76-82. DOI: 10.3928/01913913-20090301-06. View

10.

Woodhouse J, Pakeman V, Saunders K, Parker M, Fraser W, Lobo S . Visual acuity and accommodation in infants and young children with Down's syndrome. J Intellect Disabil Res. 1996; 40 ( Pt 1):49-55. DOI: 10.1111/j.1365-2788.1996.tb00602.x. View

11.

Wisniewski H, Silverman W, Wegiel J . Ageing, Alzheimer disease and mental retardation. J Intellect Disabil Res. 1994; 38 ( Pt 3):233-9. DOI: 10.1111/j.1365-2788.1994.tb00391.x. View

12.

Doyle L, Saunders K, Little J . Determining the relative contribution of retinal disparity and blur cues to ocular accommodation in Down syndrome. Sci Rep. 2017; 7:39860. PMC: 5223174. DOI: 10.1038/srep39860. View

13.

Wagner R . Ocular genetics and Down syndrome. J Pediatr Ophthalmol Strabismus. 2009; 46(2):75. DOI: 10.3928/01913913-20090301-09. View

14.

Benavides-Piccione R, Ballesteros-Yanez I, Martinez de Lagran M, Elston G, Estivill X, Fillat C . On dendrites in Down syndrome and DS murine models: a spiny way to learn. Prog Neurobiol. 2004; 74(2):111-26. DOI: 10.1016/j.pneurobio.2004.08.001. View

15.

Hiles D, Hoyme S, McFarlane F . Down's syndrome and strabismus. Am Orthopt J. 1974; 24:63-8. View

16.

Schneier A, Heidary G, Ledoux D . Optic nerve appearance in patients with Down syndrome. J Pediatr Ophthalmol Strabismus. 2013; 50(1):60. DOI: 10.3928/01913913-20121214-01. View

17.

de Weger C, Boonstra N, Goossens J . Bifocals reduce strabismus in children with Down syndrome: Evidence from a randomized controlled trial. Acta Ophthalmol. 2019; 98(1):89-97. PMC: 7003890. DOI: 10.1111/aos.14186. View

18.

Hawli Y, Nasrallah M, Fuleihan G . Endocrine and musculoskeletal abnormalities in patients with Down syndrome. Nat Rev Endocrinol. 2009; 5(6):327-34. DOI: 10.1038/nrendo.2009.80. View

19.

Postolache L, de Jong C, Casimir G . Illustration of tessellation in Down syndrome. Ophthalmic Genet. 2020; 41(2):135-145. DOI: 10.1080/13816810.2020.1744021. View

20.

Weijerman M, Marceline van Furth A, Vonk Noordegraaf A, van Wouwe J, Broers C, Gemke R . Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr. 2007; 152(1):15-9. DOI: 10.1016/j.jpeds.2007.09.045. View