Page 181 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

The eye as a window to the brain
Figure 2. Optical coherence tomography for assessments of the thickness of retinal nerve fiber
layers.
A) Image of the optic disc (left eye). The green circle indicates the peripapillary region used for RNFL
thickness measurements and the blue line shows the orientation of the papil relative to the macula.
B) Cross section of the peripapillary retina obtained by OCT. The RNFL is the tissue between the
red and turquoise line. C) Representation of RNFL thickness (black line) of the different parts of
the peripapillary region as assessed with OCT. The green line indicates the reference line, the green
area the reference range, the yellow area the borderline range, and the red area the abnormal range.
D) Example of an RNFL thickness map.
OCT=optical coherence tomography, RNFL=retinal nerve fiber layer, G=global, NS=nasal superior,
N=nasal, NI=nasal inferior, TI=temporal inferior, T=temporal, TS=temporal superior.
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Table 1. Demographic characteristics.
22q11.2DS Controls Statistics P a
Fundoscopy
Vessel morphology
Mean age, years
Male sex
Optical coherence tomography
RNFL
Mean age, years
Male sex
Macula
Mean age, years
Male sex
N=49
29.9 ± 10.9
24 (49.0%)
N=41
29.7 ± 10.2
17 (41.5%)
N=16
30.8 ± 9.7
7 (43.8%)
N=57
26.9 ± 8.3
22 (38.6%)
N=40
33.0 ± 12.7
17 (42.5%)
N=40
32.8 ± 12.9
16 (40.0%)
0.11
0.33
0.20
1.00
0.57
0.80
a Independent samples T-tests were used to compare ages and Fisher’s exact tests to compare sex
differences between-groups.
22q11.2DS=22q11.2 deletion syndrome, RNFL=retinal nerve layer thickness.
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