Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome

Aarushi Jain; Natalie K Boyd; Kelli C Paulsen; Benjamin N Vogel; Lina Nguyen; Jonathan D Santoro

doi:10.1002/ajmg.c.32068

Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome

Am J Med Genet C Semin Med Genet. 2023 Dec;193(4):e32068. doi: 10.1002/ajmg.c.32068. Epub 2023 Oct 4.

Authors

Aarushi Jain¹, Natalie K Boyd², Kelli C Paulsen², Benjamin N Vogel², Lina Nguyen², Jonathan D Santoro^{2

3}

Affiliations

¹ Boston University, Boston, Massachusetts, USA.
² Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
³ Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles, California, USA.

PMID: 37794641
DOI: 10.1002/ajmg.c.32068

Abstract

Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients. This narrative review examines ocular manifestations in children with Down syndrome and the importance of prompt ophthalmic interventions for treatment.

Keywords: Down syndrome; neuro-ophthalmology; ophthalmology; pediatric; trisomy 21.

Publication types

Review

MeSH terms

Child
Down Syndrome* / complications
Humans
Intellectual Disability* / complications
Nystagmus, Pathologic* / complications
Nystagmus, Pathologic* / diagnosis
Nystagmus, Pathologic* / genetics
Refractive Errors* / complications
Strabismus* / complications
Strabismus* / diagnosis