ABSTRACT
Background and Objective: This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). Materials and Methods: The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.8 years), emmetropia DS group (41 subjects, mean age 11.7 years) and hyperopia DS group (63 subjects, mean age 10.9 years). The participants underwent inspection, slit-lamp examination, cycloplegic refraction, ocular alignment and ocular motility examination. Ten systemic manifestations were analyzed. Results: There was no difference in the prevalence of any systemic manifestations between the groups. Considering the ophthalmic manifestations, there was statistical difference in the distribution of proportions among the three groups for nystagmus (p = 0.011), iris-stromal atrophy (p = 0.048) and strabismus (p = 0.031). The prevalence of strabismus in our DS myopia group was 35.1%, and in DS hyperopia group 38.1%. Conclusions: The results of our study suggest that DS children and young adults with any refractive error do not have a higher chance of additional systemic manifestations. Myopia in DS was associated with a higher prevalence of nystagmus and iris stromal atrophy, whereas astigmatism was found to be more frequent in hyperopia.
Subject(s)
Down Syndrome , Hyperopia , Myopia , Nystagmus, Pathologic , Refractive Errors , Strabismus , Adolescent , Atrophy , Child , Cross-Sectional Studies , Down Syndrome/complications , Humans , Hyperopia/complications , Hyperopia/epidemiology , Nystagmus, Pathologic/epidemiology , Prevalence , Refractive Errors/complications , Refractive Errors/epidemiology , Strabismus/diagnosis , Strabismus/epidemiology , Strabismus/etiology , Visual Acuity , Young AdultABSTRACT
PURPOSE: To investigate whether different types of ocular manifestations are associated with congenital heart disease (CHD) in a large Caucasian population of children and young adults with Down syndrome (DS). METHODS: Population-based, case-control study which included 185 subjects with DS (mean age 13.2 ± 7.9 years), who reported presence or absence of CHD; DS with CHD group (51 subjects, mean age 10.6 ± 5.6 years) and DS without CHD (134 subjects, mean age 14.2 ± 8.4 years). RESULTS: In our sample with DS and CHD, strabismus was found in 15 subjects (29.4%), nystagmus in 1 (2.0%), epiblepharon in 21 (41.2%) and Brushfield spots in 15 (31.3%). In the DS without CHD group, strabismus was found in 38 participants (28.4%), nystagmus in 13 (9.7%), epiblepharon in 31 (23.5%) and Brushfield spots in 21 (16.0%). Only the variables epiblepharon and presence of Brushfield spots differed significantly between the two groups (p = 0.02 and p = 0.03, respectively). Hyperopia was present in 26 participants (53.1%) in the DS with CHD group, and in 65 (57.0%) in the DS without CHD group. Oblique astigmatism was present in 25 (52.1%) in the DS with CHD group and in 61 (53.5%) in the DS without CHD group. CONCLUSIONS: Frequencies of DS participants presenting with strabismus, nystagmus, hyperopia and oblique astigmatism were not statistically different between those with CHD and those without CHD in this sample. Further studies are needed to confirm if there are associations between the presence of Brushfield spots or epiblepharon and CHD in patients with DS.
