Page 184 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 6
Table 3. Blood vessel morphology and retinal layer thickness in relation to age.
22q11.2DS
N=49
Controls
N=57
Blood vessel morphology CRAE, μm
CRVE, μm
FD
Tortuosity
r a 0.03
0.01
- 0.57
0.04
P r a P
0.85
0.96
<0.001
0.78
0.32
0.76
0.60
0.56
22q11.2DS
N=41
Controls
N=40
Peripapillary RNFL, μm Global b Nasal superior
Nasal
Nasal inferior
Temporal inferior
Temporal
Temporal superior
r a - 0.42 - 0.07 - 0.22
- 0.25
- 0.10
- 0.43
- 0.19
- 0.32
P r a P
0.007 0.17
0.11
0.53
0.005
0.22
0.04
0.14
- 0.04
- 0.07
- 0.08
0.68
0.41
0.89
0.94
0.95
0.87
0.31
- 0.13
0.02
- 0.01
- 0.01
0.03
- 0.16
22q11.2DS
N=16
Controls
N=40
Macula, μm Fovea
Parafovea
Temporal
Superior
Nasal
Inferior
Perifovea
Temporal
Superior
Nasal
Inferior
r a - 0.19
0.02
- 0.07
0.13
- 0.18
- 0.41
- 0.50
- 0.06
- 0.45
P r a P
0.48
0.96
0.79
0.63
0.52
0.12
<0.05
0.82
0.08
0.21
- 0.06
- 0.28
- 0.10
- 0.07
- 0.25
- 0.38
- 0.25
- 0.07
0.20
0.72
0.08
0.54
0.68
0.13
0.02
0.13
0.68
a
Pearson correlation coefficient.
b The global RNFL thickness represents the average thickness of the six subsections.
Bold font indicates statistical significance.
22q11.2DS=22q11.2 deletion syndrome, CRAE=central retinal artery equivalent, CRVE=central
retinal vein equivalent, FD=fractal dimension, RNFL=retinal nerve fiber layer.
Discussion
To the best of our knowledge, this is the first study that systematically
assessed retinal blood vessel morphology and retinal layer thickness
quantitatively in individuals with 22q11.2DS. Confirming the previously
reported increased prevalence of vascular tortuosity,27 we also found
that adults with 22q11.2DS had increased retinal vascular FD and RNFL
thickness of the nasal segment, and a trend for thinner RNFL in the nasal
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