Page 160 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
One child, with consanguine parents, had a VA of 2.5 logMAR probably caused
by keratoconus, subcapsular cataract and tapetoretinal degeneration. One
of the siblings of this patient also had tapetoretinal degeneration. This
was the only patient referred to the ophthalmologist for suspected visual
impairment in whom visual impairment was found.
Refractive measurements were available for 212 eyes of 106 patients (80%)
(Table 2). Moderate to severe hyperopia was seen in 87 eyes (41%) and
was persistently high in children from the age of 6 years up to adulthood.
Moderate to severe myopia was present in only a small number of eyes
(N=12 eyes, [6%]). High astigmatism was reported in 49 eyes (23%). A
moderate statistically significant negative correlation was found between
age and cylinder power (Spearman’s Rho OD: -0.538, p=0.000, OS: -0.510,
p=0.000). Most common was against-the-rule astigmatism (N=57/128
eyes, [45%]). With-the-rule astigmatism (N=37/128 eyes, [29%]) and oblique
astigmatism (N=34/128 eyes, [27%]) were seen almost equally often.
Glasses were prescribed for 35 children (35%) and 23 adults (74%), prior or
during last ophthalmic screening. A headache was reported for 32 patients
(24%) recently before or during last ophthalmic screening.
Table 2. Refractive errors found in 212 eyes of 106 patients with 22q11.2DS.
<6y 6-11.9y 12-17.9y ≥18y total
Number of eyes examined Spherical equivalent ≤-4.0D (severe) -4.0D- -2.01D (moderate) -2.0- -0.51D (mild) -0.5- 0.5D 0.51- 2.0D (mild) 2.01- 4.0D (moderate) ≥4.0D (severe) Cylindrical error
≤-2D (high) 56 68 32 212
% % 11 46 25 13 4 0 0 1 2 9 7 16 31 29 25 56 % % %
0 7 3
6 5 3
3 18 8
16 32 16 5 16
12
22 34
31 25
22 5 24 25 39 23
Abbreviations: D=diopters, y=years.
Most reported ocular findings are shown in Table 3 and include retinal
vascular tortuosity (N=38, [32%]), posterior embryotoxon (N=23, [22%]),
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