Abstract
Purpose To evaluate ocular findings in children with Down syndrome and to compare with the healthy children group. Methods The study patients were divided into two groups as the diagnosed Down syndrome group and the control group. The study was designed as a prospective and single-center study in Istanbul University Faculty of Medicine Department of Ophthalmology. The study included 93 patients in the age range from 7 to 18 years, who applied to the ophthalmology department of our clinic in the period from July 2017 to June 2018. The study included the patients allocated into the control group and the Down syndrome patients allocated into the patient group, containing 49 and 44 participants, respectively. All patients underwent complete ophthalmologic examination with biomicroscopy. Autorefractometer measurements were performed in all patients, and the best corrected visual acuity (BCVA) was determined with the use of the Snellen chart. All patients underwent spectral domain optical coherence tomography (SD-OCT) measurements for central foveal retinal (CRT), subfoveal choroidal (CCT), and peripapillary retinal nerve fiber layer (pRNFL) thicknesses. Results The average CRT was 241.2 ± 25.7 microns in Down syndrome group and 219.4 ± 21.1 microns in the control group. There was a statistically significant difference between the groups in regards to CRT (p < 0.001). The average pRNFL values were 123.1 ± 15.4 microns in the Down syndrome group and 102.2 ± 8.7 microns in the control group (p < 0.001). The average pRNFL values were 123.1 ± 15.4 microns in the Down syndrome group and 102.2 ± 8.7 microns in the control group (Conclusions In the subjects with Down syndrome, the incidence of lens opacities, strabismus, and amblyopia was higher than the control group. CRT and pRNFL were thicker in the Down syndrome group than in control group. This may represent retinal developmental changes in the patients with Down syndrome.
Highlights
Down syndrome, known as trisomy 21, is a genetic disorder caused by the presence of an extra chromosome 21 as a whole or by the presence of its copied parts in addition to the pair present in the normal human genome [1, 2]. e syndrome is typically associated with delays in the physical growth, characteristic facial features, and mild-to-moderate intellectual disability [3]
General Characteristics of the Participants and Difference between Gender and Age. e study patients were divided into two groups as the diagnosed Down syndrome group and the control group. e demographic features and the ophthalmic examination outcomes of the study patients can be seen in Table 1. e study included a total of 44 right eyes of 44 patients diagnosed with Down syndrome in the age range from 7 to 18 years in the Down syndrome group and 49 right eyes of 49 patients in the same age range in the control group
The frequencies of lens opacities, strabismus, blepharitis, and amblyopia are higher as expected in the patient group with Down syndrome than in the control group, which is a finding in line with the information in the literature [16, 17]
Summary
Known as trisomy 21, is a genetic disorder caused by the presence of an extra chromosome 21 as a whole or by the presence of its copied parts in addition to the pair present in the normal human genome [1, 2]. e syndrome is typically associated with delays in the physical growth, characteristic facial features, and mild-to-moderate intellectual disability [3]. Down syndrome is frequently associated with a wide range of ocular complications including refractive errors, eyelid abnormalities, strabismus, nystagmus, abnormalities in the tear duct and the iris, the presence of keratoconus, and congenital or developmental cataracts [4,5,6,7,8,9,10,11]. It is not easy to diagnose eye pathologies in children with Down syndrome because of the difficulties which may arise during an eye examination. Is is why the visual treatment of people with Down syndrome is important for both the individual and the parents, as well as it is for the community [15]. E aim of our study was to examine the ocular findings in children with Down syndrome in the age range from 7 to Journal of Ophthalmology. 18 years and to evaluate these findings in comparison to the normal population in the same age group
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