Page 178 - Demo

Chapter 6176Study participantsAdults with a molecularly confirmed 22q11.2 deletion (i.e., including the LCR22A-LCR22B region) and with clinically acquired retinal images available were included in the study. Controls were recruited through flyers posted at the MUMC+. Exclusion criteria for controls were: a history of retinal disease, hypertension, diabetes mellitus, a psychotic disorder, and/or cognitive decline. Two different control groups were recruited: one for blood vessel morphology and one for retinal layer thickness measurements, because initially we only aimed to investigate blood vessel morphology. For both groups, controls were selected so that on group level they did not differ in sex and age with the 22q11.2DS group.Clinical characterizationAll adults with 22q11.2DS were examined by an ophthalmologist, psychiatrist and neurologist as part of standard of care at the 22q11 clinic at MUMC+. None of the adults with 22q11.2DS were referred to this clinic for ophthalmic problems. Clinical data regarding the presence or absence of psychiatric disorders were extracted from the medical files. Smoking status was assessed for the study of retinal blood vessel morphology: seven adults with 22q11.2DS and three controls smoked. Optometric assessments were performed between January 2016 and April 2022. Eight adults with 22q11.2DS had no OCT data available because fundoscopy was implemented earlier as standard clinical care, resulting in more fundoscopic data compared to OCT. From 2017, measurements of macular thickness were added to the assessments, but subsequently had to be discontinued in 2021 due to the COVID pandemic, resulting in more peripapillary RNFL data than macular data. All retinal images were taken in a dark room to enable auto-dilation of the pupil, using non-mydriatic cameras.FundoscopyFundoscopic images were obtained with a TopCon TRC-TRC-50EX camera (Topcon Europe Medical BV, The Netherlands) between 2016 and 2020, and with a Clarus 700TM camera (Carl Zeiss Meditec Inc., California, USA) between 2020 and 2022. All fundoscopic images were assessed by an ophthalmologist (N.B.) to rule out retinal and optic nerve abnormalities, and to assess the image quality. All images were coded for the researcher who