Page 166 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
general population. Second, the cross-sectional study with a retrospective
study design made it possible that clinicians have not specifically assessed or
reported on all variables for patients who visited the outpatient clinic. Also, age
of onset of ocular findings was often lacking from medical files or unknown,
making it difficult to report prevalence rates of adult-onset ocular findings.
Taking into account that some patients had difficulties with performing the
full examination due to non- cooperativity or not understanding instructions,
prevalence rates may have been underestimated.
Third, there is a risk of selection bias since most participants in our
cross-sectional study and studies included in this review were assessed
in tertiary 22q11.2 centers. However, most participants are referred to
these tertiary centers for congenital heart defects, speech and language
disorders (including velopharyngeal insufficiency), and / or developmental,
psychological or psychiatric problems. Therefore, we do not expect
overestimated ophthalmologic prevalence rates.
Conclusion
Refractive errors, strabismus and amblyopia are common, clinically relevant
and treatable ocular findings in patients with 22q11.2DS. Clinicians should
be aware of these manifestations and the beneficial result of detection and
correction at an early age. Therefore, we would recommend standardized
ophthalmic and orthoptic screening in children with 22q11.2DS at the age
of three years or at diagnosis, and a low-threshold for referral in adults.
Funding
This work was supported financially by the foundation of scientific research
of ‘s Heeren Loo (#2210100, Stichting Wetenschappelijk Onderzoek).
Conflict of interests
The authors declare no conflict of interest.
Data availability statement
The data that support our findings are available from the corresponding
author on reasonable request.
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