Page 165 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
For young adults with 22q11.2DS we recommend low-threshold referral
for ophthalmic and orthoptic screening because of a high prevalence
of hyperopia and astigmatism. Clues for visual impairment may be
headaches, fatigue, behavioral problems or functional deterioration. We
have no reasons to believe that clinically relevant ocular findings in adults
with 22q11.2DS and an intellectual disability are much different from
what has been reported for adults with intellectual disabilities in general.
Consequently, we have no reasons to deviate from the general guidelines for
ophthalmic screening in patients with intellectual disabilities recommending
regular screening in late-adulthood.48, 49 Recommendations for monitoring
are provided in Table 4.
Finally, we would recommend ophthalmological consultation and subsequent
testing for a suspected second genetic hit in case of a second, possibly
genetic, diagnosis such as tapetoretinal degeneration or congenital cataract.
Large prospective studies with standardized ophthalmological examination
and long-term follow-up in children and adults are necessary to evaluate the
frequency of ocular findings and to study associations between ocular findings
and age in 22q11.2DS. Future studies may consider measuring the axial length
of the eyeball, corneal shape and accommodation in order to better understand
the high prevalence of hyperopia and delay in emmetropization in children
with 22q11.2DS. Also, more research is needed on sensory disorders in
general because of their importance for speech-language and communication
development and in the context of psychiatric co-morbidities in 22q11.2DS.
These studies will be of value for informing guidelines, especially for adults
with 22q11.2DS, which will be updated next year.
Strengths of our cross-sectional study include the relatively large
22q11.2DS sample and systematic examination by a small number of
ophthalmologists. There are also some limitations. First, it is important
to note that findings may be difficult to compare between studies due to
different definitions, measurement techniques, age and ethnic and racial
groups. Prevalence rates of some variables such as posterior embryotoxon
and vascular tortuosity may differ to a certain extent because of subjective
assessment. Nevertheless, our results and previous findings all indicate that
these ocular findings are more prevalent in 22q11.2DS compared to the
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