Page 188 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 6
over time, and to investigate the effects of comorbid conditions such as
refractive errors, diabetes mellitus and blood pressure,17, 27, 56-58 and effects of
medications. It will also have to become clear to what extent abnormal retinal
morphological findings are biomarkers of 22q11.2DS associated disease
processes, or are merely manifestations of 22q11.2DS in themselves.
Conclusion
In conclusion, this exploratory study identified several retinovascular and
retinoneural abnormalities in adults with 22q11.2DS compared to controls.
The results of this study support future research that focus on retinal FD,
tortuosity and RNFL thickness as potential biomarkers for psychotic and
(early) neurodegenerative disorders in 22q11.2DS.
Funding
This work was supported financially by Stichting Wetenschappelijk
Onderzoek, ‘s Heeren Loo under grant number 2210100. The funder had
no role in the design and conduct of the study, preparation of the review, or
approval of the manuscript.
Acknowledgments
The authors thank the students and colleagues at Maastricht University
and ‘s Heeren Loo for their contributions to this study, in particular Marjan
Drukker (Maastricht University) for review and critique of the statistical
analysis. Agnies van Eeghen is member of European Reference Network
ITHACA.
Disclosures
The authors report there are no competing interests to declare.
Data availability
The data that support the findings of this study are available on request
from the corresponding author, E.B. The data are not publicly available
due to their containing information that could compromise the privacy of
research participants.
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