Ocular abnormalities in down syndrome: An analysis of 140 Chinese children

doi:10.1016/S0887-8994(97)00029-5

Pediatric Neurology

Volume 16, Issue 4, May 1997, Pages 311-314

https://doi.org/10.1016/S0887-8994(97)00029-5 Get rights and content

Abstract

One hundred forty Chinese children with Down syndrome (DS) treated in the Child Assessment Centre of the Duchess of Kent Children's Hospital in Hong Kong between 1985 and 1996 underwent a detailed ophthalmologic evaluation, including test of visual acuity by behavioral testing or retinoscopy, determination of ocular motility, visual field examination, binocular examination for strabismus, determination of near point convergence and pupillary reflex, and/or slit lamp bimicroscopy and ophthalmoscopy to assess ocular health. Only 43 children (31%) had no ocular abnormalities. The overall incidence of ocular abnormalities was 69%, and included refractive error (58%), strabismus (20%), nystagmus (11%), blepharitis/conjunctivitis (7%), lens opacities (4%), and glaucoma (0.7%). No child had Brushfield spots or keratoconus. The incidence of refractive errors increased with increasing age and nearly doubled at school age. As compared with white children with DS, the Chinese children with DS exhibited a higher incidence of refractive error and a similar incidence of lens opacities but a lower incidence of strabismus, nystagmus, blepharitis, Brushfield spots, and keratoconus. Regular visual surveillance, especially of visual acuity, in children with DS as they mature is important in preventing amblyopia.

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Down syndrome (DS) is the most common chromosomal disorder in humans. DS is associated with increased prevalence of several ocular sequelae, including characteristic blue-dot cerulean cataract. DS is accompanied by age-dependent accumulation of Alzheimer's disease (AD) amyloid-β (Aβ) peptides and amyloid pathology in the brain and comorbid early-onset Aβ amyloidopathy and colocalizing cataracts in the lens. Quasi-elastic light scattering (QLS) is an established optical technique that noninvasively measures changes in protein size distributions in the human lens in vivo. In this cross-sectional study, lenticular QLS correlation time was decreased in adolescent subjects with DS compared to age-matched control subjects. Clinical QLS was consistent with alterations in relative particle hydrodynamic radius in lenses of adolescents with DS. These correlative results suggest that noninvasive QLS can be used to evaluate molecular changes in the lenses of individuals with DS.
Down syndrome and the eye: Ocular characteristics and ocular assessment
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People with DS with a lighter color iris were more likely to present with Brushfield spots than those with darker irides.24 Lens opacities in DS are relatively common (Fig. 6) and have been reported to range from 4% to 72.2%.34,102 The notably high prevalence of 72.2% was identified in eyes of people with DS who were ≥30 years old.34
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifestations in the eye, and ocular adnexae. People with DS have a variety of ophthalmic conditions, some of which require intervention. The variable systemic and ophthalmic presentations in DS can make the delivery of eye care challenging. We highlight common ophthalmic presentations in people with DS, as well as the practical implications of delivering eye examinations for this complex needs population. We aim to aid clinicians involved in the ophthalmic care of people with DS in both clinical and research settings.
Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21
2019, American Journal of Ophthalmology
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.
Visual assessment in Down Syndrome: The relevance of early visual functions
2019, Early Human Development
Citation Excerpt :
In our sample, a high incidence of hyperopia (83.3%) and astigmatism (45.2%) was observed, but in most of the children the refractive errors were present within physiological limits for their age and they did not require correction with spectacles. This finding differs from what is reported in other studies; one possible explanation is the lower age range in our sample compared to the other DS populations studied [9,11,37]. Furthermore, the incidence of strabismus (21.4%) and nystagmus (16.7%) was very similar to that found in the same studies, and these data confirm the possibility that ocular motility disorders may occur very early in DS infants.
Children with Down Syndrome (DS) have a high prevalence of ocular disorders, and even when ophthalmological deficits (i.e. refractive errors or strabismus) are corrected, visual acuity seems to have a different developmental trend compared to typical children. Unfortunately, there is no consensus about the age at which it is fundamental to perform a first comprehensive visual assessment in this population.
We analyzed early visual functions in a sample of 42 Italian children with DS, in order to achieve new insights for early surveillance and intervention.
DS children were evaluated with the Early Neurovisual Assessment, including Teller Acuity Cards (at 6, 12 and 18 months of age) and the Pediatric Ophthalmological Examination (within the 36th months of age).
Visual acuity in our sample was lower than findings reported in the literature on healthy Italian children, but the values were within the confidence interval reported in previous studies on DS children. Moderate or severe refractive errors (> 3diopters) were present in five children (four had hyperopia and one myopia). Abnormalities in ocular motility were observed in 15 children and pathological findings for fundus oculi or lens were found in another eight. Furthermore, ophthalmological findings correlated with visual acuity at 18 months of age.
According to our results, the Early Neurovisual Assessment at 18 months of life is a reliable tool for early detection of visual disorders in children with DS and it is useful for programming early intervention to promote their neurodevelopment.
Ophthalmologic abnormalities among students with cognitive impairment in eastern Taiwan: The special group with undetected visual impairment
2017, Journal of the Formosan Medical Association
Citation Excerpt :
Further studies are needed to confirm these findings. Wong and Ho9 showed that the overall incidence of ocular abnormalities in Chinese children with Down syndrome was 69%, and included refractive errors (58%), strabismus (20%), nystagmus (11%), blepharitis/conjunctivitis (7%), lens opacities (4%), and glaucoma (0.7%). Kim et al10 reported that the overall incidence of ocular abnormalities in Korean children with Down syndrome was 91% (112/123), 54% of which was refractive error.
Students with cognitive impairment are at increased risk of suffering from visual impairment due to refractive errors and ocular disease, which can adversely influence learning and daily activities. The purpose of this study was to evaluate the ocular and visual status among students at the special education school in Hualien.
All students at the National Hualien Special Education School were evaluated. Full eye examinations were conducted by a skilled ophthalmologist. The students' medical records and disability types were reviewed.
A total of 241 students, aged 7–18 years, were examined. Visual acuity could be assessed in 138 students. A total of 169/477 (35.4%) eyes were found to suffer from refractive errors, including 20 eyes with high myopia (≤–6.0 D) and 16 eyes with moderate hypermetropia (+3.0 D to +5.0 D). A total of 84/241 (34.8%) students needed spectacles to correct their vision, thus improving their daily activities and learning process, but only 15/241 (6.2%) students were wearing suitable corrective spectacles. A total of 55/241 students (22.8%) had ocular disorders, which influenced their visual function. The multiple disability group had a statistically significant higher prevalence of ocular disorders (32.9%) than the simple intellectual disability group (19.6%).
Students with cognitive impairment in eastern Taiwan have a high risk of visual impairment due to refractive errors and ocular disorders. Importantly, many students have unrecognized correctable refractive errors. Regular ophthalmic examination should be administered to address this issue and prevent further disability in this already handicapped group.
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Original articleOcular abnormalities in down syndrome: An analysis of 140 Chinese children

Abstract

Am J Ophthalmol

Ophthalmic disorders in children with Down syndrome

Dev Med Child Neurol

Trisomy 21 Down syndrome

Ocular changes in mongolism

Ann NY Acad Sci

Mongolism (Down's syndrome) and keratoconus

Br J Ophthalmol

A review of the literature on Down's syndrome and an optometrical survey of 44 patients with the syndrome

Am J Optom

Down's syndrome and strabismus

Am Orthop J

Original article
Ocular abnormalities in down syndrome: An analysis of 140 Chinese children