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The eye as a window to the brain1756IntroductionThe recurrent heterozygous 22q11.2 deletion is associated with 22q11.2 deletion syndrome (22q11.2DS), a multisystem disorder with an estimated prevalence of 1 in 2148 live births.1, 2 Manifestations of 22q11.2DS include congenital heart defects, intellectual disability and an increased risk of developing schizophrenia and early-onset Parkinson’s disease.3-6 A notable proportion of individuals with 22q11.2DS display a substantial cognitive decline,7, 8 partially related to psychotic disorders.8, 9Because retinal and cerebral tissue share embryological, physiological, and anatomical characteristics, retinal blood vessel morphology and retinal layer thickness have been proposed as non-invasive biomarkers for, and increasingly studied in, neuropsychiatric and neurodegenerative disorders.10-15 For example, wider venules and increased tortuosity of retinal blood vessels have been reported in patients with schizophrenia relative to healthy controls.12, 16, 17 Also, thinning in retinal nerve fiber layer (RNFL) has been found in patients with cognitive impairment in comparison to healthy controls.18, 19 Given that retinal vessel morphology and retinal layer thickness may reflect cerebral vessel and nerve tissue changes in different conditions, and can be assessed using non-invasive, fast and cost-effective methods, study of these parameters as possible biomarkers for neuropsychiatric disorders seems promising.In this exploratory study, we examined retinal vascular parameters and retinal layer thickness in adults with 22q11.2DS relative to sex- and agematched controls and in relation to age. MethodsStudy design and settingThis was a cross-sectional study conducted at the 22q11 outpatient clinic of Maastricht University Medical Center+ (MUMC+), The Netherlands. The Institutional Review Board at MUMC+ (2019-1321-A-10) approved the study and waived the need for written consent to use pseudonymized clinical data of adults with 22q11.2DS. All controls provided written informed consent.