Page 153 - Demo

Ocular findings in 22q11.2DS1515IntroductionThe 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.7-9The 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.Patients and Methods Systematic review of the literatureSearch 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