Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome.

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.

Ophthalmic manifestations in children and young adults with Down syndrome and congenital heart defects.

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.

Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome.

PURPOSE: The aims of the present population-based, cross-sectional study were to examine the frequency and type of strabismus, refractive errors and nystagmus in children and young adults with Down syndrome (DS) in Macedonia and Croatia. METHODS: A total of 170 unselected children and young adults with DS aged 1-34 years were examined for ocular findings. The ocular examination included: a visual acuity assessment, cycloplegic refraction, ocular alignment and ocular motility. RESULTS: Strabismus was found in 45 of 170 children (26.5%), and esodeviation was the most common type. Nine (20%) had exodeviation and 4 (8.9%) vertical deviation. In 27 of 32 esotropic patients, the strabismus was regarded as acquired esodeviations. The frequency of strabismus was lowest in the high-grade hyperopia group (5%). Concerning esodeviations, fewer cases (3%) were in the high-grade hyperopia group. Most of the cases with esodeviations were in correlation with low-grade hyperopia (31%), myopia (28 %) and emetropia (16%). Hyperopia was the most common refractive error and high myopia increased in prevalence in the over 20 age group. Astigmatism was present in 72.4% of patients. Nystagmus was observed in 18 patients. Ten of 18 patients with nystagmus were associated with the presence of strabismus (9 esodeviations, 1 exotropia). CONCLUSION: In our study, the high prevalence of strabismus can not be attributed to the presence of hyperopia. Our data show no association between refraction and strabismus in children with DS. Oblique astigmatism has been found to be the most common type of astigmatism in our study group.

Refractive errors in children and young adults with Down's syndrome.

PURPOSE: Down's syndrome (DS) is the most common chromosomal anomaly. Numerous ophthalmic features have been reported. The aim of our study was to investigate the incidence of refractive errors in children and young adults with DS in Macedonia. METHODS: Fifty-six children and young adults with DS, aged 2-28 years, from Macedonia, underwent slit-lamp examination, ocular motility and refraction. RESULTS: The overall incidence of refractive errors in the Macedonian children and young adults with DS was 96.4%. A total of 17.8% of the subjects had myopia, 23.2% had hypermetropia and 55.3% had astigmatism. Strabismus was seen in 13 (23.2%) of the subjects (nine had esotropia, three had exotropia, one had hypertropia). CONCLUSIONS: The incidence of refractive errors in Macedonian children and young adults with DS was similar to that in Asian children. Compared with White (Caucasian) and Asian children with DS, Macedonian children and young adults exhibited lower incidences of hypermetropia and myopia, and a higher incidence of astigmatism, in which oblique astigmatism represented the predominant type.