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. doi: 10.1016/j.ajo.2019.06.006. Epub 2019 Jun 17.


Purpose: Various ophthalmologic findings have been associated with trisomy 21. However, prior studies on this topic are limited by their sample size and the lack of follow-up regarding the incidence of new pathology after an initially normal examination. We determined whether children who have a normal first examination need to have formal reevaluation by an ophthalmologist.

Design: Retrospective cohort study.

Methods: Records were reviewed for 689 patients with trisomy 21 evaluated at Vanderbilt Eye Institute between 2012 and 2017. Ocular and refractive abnormalities present on initial screening were recorded and follow-up data were reviewed to determine if new abnormalities developed at subsequent visits.

Results: Of the 689 patients, 410 (59.5%) had a significant finding on their first examination. The most common abnormalities seen on initial screening examination were strabismus, significant refractive error, and eyelid abnormalities (including ectropion and accessory puncta). Of the 279 initially normal patients, 179 had at least 1 follow-up visit at a mean follow-up interval of 21.6 months (average age 3.7 years). At the first follow-up visit, 129 remained normal, while 50 had a new abnormality, most commonly significant refractive error and strabismus. On second follow-up visit, at a mean follow-up interval of 12 months (average age 4.8 years), 63% remained normal.

Conclusions: Ocular pathology occurs in trisomy 21 at a much higher prevalence than the general population; thus these children initially should have a comprehensive eye examination. Although the development of new ocular pathology in a child with trisomy 21 and a previously normal examination is not unusual, most of these new abnormalities are detectable with automated vision screening techniques or direct visual inspection of the eyes and ocular adnexa; thus once a child has a normal examination, a formal vision screening could replace a formal ophthalmologic examination.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Down Syndrome / epidemiology*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / epidemiology*
  • Eyelids / abnormalities*
  • Female
  • Follow-Up Studies
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Physical Examination
  • Prevalence
  • Refractive Errors / diagnosis
  • Refractive Errors / epidemiology*
  • Retrospective Studies
  • Strabismus / diagnosis
  • Strabismus / epidemiology*