Page 182 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 6
Results
Demographics
Demographic characteristics are presented in Table 1. For the study of
retinal vessel morphology, 49 adults with 22q11.2DS were included. Of
60 potential controls, 2 were excluded from participation due to a retinal
disease, and 1 was excluded from analyses due to technical problems. OCT
data were available for 41 adults with 22q11.2DS, 16 with data on macular
thickness, and 40 controls. By design, no statistically significant differences
were found in mean age or sex distribution between adults with 22q11.2DS
and controls.
Retinal vessel morphology
Table 2 shows the results for vascular parameter measurements. No
differences were found in CRAE or CRVE between adults with 22q11.2DS
and controls. However, adults with 22q11.2DS had significantly higher FD
and vascular tortuosity compared to controls, with large effect sizes.
Retinal layer thickness
Results for peripapillary RNFL and macular thickness are shown in Table
2. Significant between-group differences were found with increased nasal
RNFL thickness in the group of adults with 22q11.2DS as compared
to controls. A trend for thinner RNFL of the nasal inferior segment was
observed in adults with 22q11.2DS. No differences in macular thickness
were found between adults with 22q11.2DS and controls.
Optometric variables in relation to age
Correlations of age with retinal vessel morphology and retinal layer thickness
are shown in Table 3. There were no significant correlations of age with
CRAE or CRVE in either adults with 22q11.2DS or controls. A moderate
negative correlation was found of age with FD in adults with 22q11.2DS but
not in controls. No significant correlations were found of age with tortuosity
in adults with 22q11.2DS or controls.
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