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.
Retrospective cohort study.
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.
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.
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.