Background: Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS.
Purpose: To review the scientific evidence and estimate the prevalence of ophthalmological manifestations in the pediatric population with DS.
Data Sources: Electronic databases including MEDLINE, Cochrane Library, EMBASE, ScienceDirect, and LILACS.
Study Eligibility Criteria: Published observational studies with available and original data were included. Articles were excluded if the study design was a review, letter to the editor, case report, case series, or systematic review and if the subjects had ophthalmological manifestations secondary to other conditions.
Participants and Interventions: Pediatric and adolescent population with DS and with ophthalmological evaluation.
Study Appraisal and Synthesis Methods: A data collection form was designed in Excel. Five reviewers extracted relevant details about the design and results of each study. The quality of the studies was assessed by applying the tools of systematic reviews of prevalence and incidence of the Joanna Briggs Institute. We calculated the weighted prevalence of ophthalmological manifestations, considering only the studies reporting the measurement of each manifestation.
Results: Twenty-two articles (from 15 countries, published during 1994–2020) were included in the present systematic review. Ocular manifestations were observed in 85% of the studied pediatric and adolescent populations with DS. The most frequent ones were slanting fissures, oblique fissures, epicanthus, and epiblepharon.
Conclusion: The ocular manifestations in the pediatric and adolescent population with DS are varied, and some can irreversibly affect visual development. Screening of the pediatric population with DS should be conducted from the first months of age and continued annually.
Systematic Review Registration Number: PROSPERO ID CRD42019127717

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Posted 02 Jun, 2021
On 17 Nov, 2021
Received 09 Nov, 2021
Received 09 Nov, 2021
On 27 Oct, 2021
Received 22 Jul, 2021
On 08 Jul, 2021
Received 06 Jul, 2021
On 06 Jul, 2021
Invitations sent on 05 Jul, 2021
On 27 Jun, 2021
On 27 Jun, 2021
On 29 May, 2021
On 10 May, 2021
Posted 02 Jun, 2021
On 17 Nov, 2021
Received 09 Nov, 2021
Received 09 Nov, 2021
On 27 Oct, 2021
Received 22 Jul, 2021
On 08 Jul, 2021
Received 06 Jul, 2021
On 06 Jul, 2021
Invitations sent on 05 Jul, 2021
On 27 Jun, 2021
On 27 Jun, 2021
On 29 May, 2021
On 10 May, 2021
Background: Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS.
Purpose: To review the scientific evidence and estimate the prevalence of ophthalmological manifestations in the pediatric population with DS.
Data Sources: Electronic databases including MEDLINE, Cochrane Library, EMBASE, ScienceDirect, and LILACS.
Study Eligibility Criteria: Published observational studies with available and original data were included. Articles were excluded if the study design was a review, letter to the editor, case report, case series, or systematic review and if the subjects had ophthalmological manifestations secondary to other conditions.
Participants and Interventions: Pediatric and adolescent population with DS and with ophthalmological evaluation.
Study Appraisal and Synthesis Methods: A data collection form was designed in Excel. Five reviewers extracted relevant details about the design and results of each study. The quality of the studies was assessed by applying the tools of systematic reviews of prevalence and incidence of the Joanna Briggs Institute. We calculated the weighted prevalence of ophthalmological manifestations, considering only the studies reporting the measurement of each manifestation.
Results: Twenty-two articles (from 15 countries, published during 1994–2020) were included in the present systematic review. Ocular manifestations were observed in 85% of the studied pediatric and adolescent populations with DS. The most frequent ones were slanting fissures, oblique fissures, epicanthus, and epiblepharon.
Conclusion: The ocular manifestations in the pediatric and adolescent population with DS are varied, and some can irreversibly affect visual development. Screening of the pediatric population with DS should be conducted from the first months of age and continued annually.
Systematic Review Registration Number: PROSPERO ID CRD42019127717

Figure 1
This is a list of supplementary files associated with this preprint. Click to download.
Loading...