Page 155 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
Study subjects
We included patients with a genetically confirmed 22q11.2 deletion. Atypical
22q11.2 deletions were excluded, i.e. not involving the A-B region.1
Data 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, astigmatism
with 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.12
5
Statistical analysis
Categorical 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 two-
tailed, with statistical significance defined as P < 0.05, using IBM SPSS
software (Statistics 25; SPSS, Inc., Chicago, IL).
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