Page 183 - 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
Table 2. Blood vessel morphology and retinal layer thickness.
22q11.2DS
N=49
Controls
N=57
Blood vessel morphology CRAE, μm
CRVE, μm
FD
Tortuosity
Peripapillary RNFL, μm Global c Nasal superior
Nasal
Nasal inferior
Temporal inferior
Temporal
Temporal superior
Macula, μm Fovea
Parafovea
Temporal
Superior
Nasal
Inferior
Perifovea
Temporal
Superior
Nasal
Inferior
Mean 143.45
251.93
1.38
1.47
SD 31.65
36.63
0.10
0.17
Mean Mean 140.34
250.10
1.26
1.36
22q11.2DS
N=41
SD 30.43
35.03
0.14
0.07
Mean Statistics
b
0.10
0.05
0.99
0.85
Controls
N=40
Effect
size a
99.59 107.66
84.95
96.93
136.95
74.24
136.66
SD 12.57 25.98
18.36
30.60
28.18
14.51
20.43
99.75 100.90
73.10
109.45
147.15
76.73
140.18
SD 8.85 17.80
14.17
25.77
18.49
12.59
20.74
0.30
0.72
- 0.44
- 0.43
- 0.18
- 0.17
22q11.2DS
N=16
Controls
N=40
Mean 279.75
330.31
344.44
344.81
338.31
290.19
306.13
311.88
287.81
SD 26.0
18.86
11.69
12.55
12.58
10.06
16.52
20.89
10.70
Mean 282.2
335.40
345.40
348.63
343.40
290.05
301.00
317.74
293.64
SD 22.08
13.76
15.76
13.12
12.08
13.36
13.18
14.29
15.04
Effect
size a
Cohen’s d P
0.61
0.79
<0.001
<0.001
Statistics b
Cohen’s d P
- 0.01 0.95
0.18
0.002
0.05
0.06
0.41
0.44
Statistics b
Cohen’s d P
0.72
0.27
0.83
0.33
0.17
0.97
0.23
0.23
0.17
Effect
size a
- 0.10
- 0.31
- 0.07
- 0.30
- 0.41
0.01
0.34
- 0.33
- 0.45
6
a Cohen’s d effect sizes were determined by the mean difference between the groups, divided by
the pooled SD.
b Independent samples T-tests were used to compare continuous variables between groups.
c The global RNFL thickness represents the average thickness of the six subsections.
Bold font indicates statistical significance.
22q11.2DS=22q11.2 deletion syndrome, SD=standard deviation, CRAE=central retinal artery
equivalent, CRVE=central retinal vein equivalent, FD=fractal dimension, RNFL=retinal nerve fiber
layer.
Regarding the peripapillary RNFL, moderate significant negative correlations
were found of age with retinal thickness of the global, temporal inferior
and temporal superior segments in adults with 22q11.2DS, but not in
controls. For macular thickness, there was a significant moderate negative
correlation of age with the perifoveal superior segment in both adults with
22q11.2DS and controls.
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