Page 161 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
strabismus (N=16, [12%]), amblyopia (N=15, [11%]) of which 20% were
refractive amblyopia, and optic disk abnormalities (N=15, [13%]) such as
hyperpigmentation, hypoplastic, small or tilted optic disks and excavations.
Nine patients (7%) had a history of eye surgery, which included strabismus
correction (N=3, [2%]), dacryocystorhinostomy (N=3, [2%]), eye lid correction
(N=2, [2%]) and entropion correction (N=1, [1%]). All surgeries, except for one
eye lid correction, have taken place in childhood. Prevalence rates of ocular
findings in patients younger than 18 years at time of examination were in
general slightly lower compared to prevalence rates in all patients. However,
it should be noted that some of the ocular findings in adults, especially those
that typically manifest in childhood such as amblyopia or embryotoxon
posterior, are likely to have been present at an earlier age. Less frequent
ocular findings were nystagmus (N =2, [2%]), uveitis (N=1, [1%]), cataract
(N=1, [1%]), iris remnants (N=1, [1%]), bilateral corneal ectasia (N=1, [1%])
and one patient with keratoconus, subcapsular cataract and tapetoretinal
degeneration. There was no association between retinal vascular tortuosity
and the presence of a congenital heart defect (Chi2=2.19, p=0.33). There
were no differences in ocular abnormalities between males and females,
except for posterior embryotoxon which was significantly more prevalent in
women (18/60, [30%]) compared to men (5/46, [11%]) (Chi2 = 5.61, p=0.02).
5
Table 3. Ocular findings in 132 patients with 22q11.2DS.
Ocular findings Number of
patients
% of patients
<18y [95% CI] a
% of total
[95% CI] b
38/120 23/106 16/132 9/132 15/120 24 [19-39] 15 [11-30] 10 [5-18] 6 [2-13] 9 [5-18] 6 [2-13] 4 [1-10] 3 [1-8] 0 [0-4] 3 [1-8] 32 [23-40]
22 [14-30]
12 [6-18]
7 [2-11]
13 [7-19]
Retinal vascular tortuosity c Posterior embryotoxon c Strabismus Eye surgery Optic disk abnormalities c Amblyopia Epicanthus Ptosis Motility disorder Dacryostenosis Glasses prescribed 58/132 35 [26-45] 44 [35-53]
15/132 11 [6-17]
11/132 8 [4-13]
6/132 5 [1-8]
3/132 2 [0-5]
3/132 2 [0-5]
a Proportion of patients <18 years at time of examination (n=101).
b Proportion of the total sample (n=132).
c For 12 patients no fundoscopy and for 26 patients no slit lamp examination data was available.
Abbreviation: CI= confidence interval, y=years.
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