Page 177 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

The eye as a window to the brain
Introduction
The 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, 9
Because 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 age-
matched controls and in relation to age.
6
Methods
Study design and setting
This 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.
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