Page 155 - Demo

Ocular findings in 22q11.2DS1535Study subjectsWe included patients with a genetically confirmed 22q11.2 deletion. Atypical 22q11.2 deletions were excluded, i.e. not involving the A-B region.1Data collection Data on demographic and clinical characteristics included molecular test results, sex, age at most recent ophthalmic screening, reason for referral, congenital heart defects, ophthalmological abnormalities, presence of a headache, prescription of glasses and treatment and/or ocular surgery in the past and results of most recent ophthalmic screening. Prevalence rates of vascular tortuosity, posterior embryotoxon and optic disk abnormalities are based on the total number of patients who were examined using fundoscopy and slit lamp.Best corrected visual acuity measurements were transformed to LogMAR and categorized as described above.11 Spherical refractive errors were divided into six groups comparable to previous studies on ocular findings in 22q11.2DS.8, 9 Refractive errors, myopia and hyperopia, were considered mild in case of more than 0.5 diopters (D) to 2.0D, moderately severe in case of >2.0D and <4.0D and severe in case of ≥4.0D. Finally, astigmatismwith cylindrical errors of ≤ -2.0D were extracted and considered high.Astigmatism was classified as with-the-rule, against-the-rule and oblique as described before.12Statistical analysisCategorical data are presented as frequencies with percentage (%) and continuous data are presented as median with ranges. For prevalence rates in our cross-sectional study, 95% confidence intervals were calculated. We used Spearman’s Rank-Order correlation for studying the degree of association between age and refractive errors, given the asymmetric data distribution. We used Chi-square tests to compare ophthalmic findings, such as retinal vascular tortuosity, between men and women and between those with and without congenital heart defects. All analyses were twotailed, with statistical significance defined as P < 0.05, using IBM SPSS software (Statistics 25; SPSS, Inc., Chicago, IL).