Page 153 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
Introduction
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with
an estimated prevalence of 1 in 3000 live births.1 Patients show a marked
variability in the clinical expression. Well-known manifestations include
speech-language and developmental delay, intellectual disability and an
increased risk of developing psychiatric disorders such as schizophrenia
and anxiety disorders.2-4 Sensory dysfunction has been described as well.
For example, hearing loss is frequently reported in 22q11.2DS and large
deficits in olfactory function have been described in several studies.5, 6 A
number of studies have reported on ocular findings in 22q11.2DS, mainly
focusing on children.7-9
The aim of this study is to provide a systematic review of the literature
on ocular findings in patients with 22q11.2DS and to present the results
of a Dutch multicenter cross-sectional study of children and adults with
22q11.2DS in order to provide recommendations for ophthalmic screening
in 22q11.2DS.
5
Patients and Methods
Systematic review of the literature
Search strategy and study selection
On January 14th 2021, we performed a systematic literature search in
PubMed, Embase and Cochrane medical databases (See Supplementary 1 for
details). After removing duplicates, titles and abstracts were independently
screened by two reviewers (EV, MN and/or EVS). Subsequently, full-text
articles were assessed for eligibility by the three reviewers. All studies that
reported on ocular findings, that were assessed by a physician specialized
in ophthalmology, in patients with 22q11.2DS were included. We excluded
research reporting on patients with a clinical diagnosis of 22q11.2DS,
velocardiofacial syndrome, or DiGeorge syndrome, that lacked molecular
confirmation. We excluded studies that did not provide prevalence rates for
specific ocular findings. Reviews, case studies, conference abstracts and
non-human studies were excluded. Discrepancies between authors were
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