Page 157 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
9 and two other included mainly children.8, 17 All studies included patients
with a 22q11.2 deletion confirmed by fluorescence in situ hybridization test
and/or multiplex ligation-dependent probe amplification technique.7-9, 17
5
Figure 1. Flow diagram depicting the different phases of the systematic review on ocular findings in
patients with 22q11.2DS (adapted from the PRISMA 2009 flow diagram; http://prisma-statement.
org/)
a For the complete list of risk of bias of studies, see Supplementary material 3.
Quality assessment
Substantial heterogeneity was present among studies concerning
demographics, methods, definitions and outcome measures. The
methodology of the studies was poorly described or missing in most
studies, complicating comparative evaluation.
Ocular findings
VA was (near) normal in most patients (91-94%). In one patient one eye was
severely impaired because of a Peters’ anomaly.7 One study described that
VA was “lower than normal” in two eyes with high hyperopia and one eye
with exotropia and high myopia.9
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