Page 163 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
astigmatism was most common in all age groups in our cohort and can
be influenced by a reduction in lid pressure,25 which may have contributed
to the disturbed emmetropisation in our cohort. Eye lid hooding and
ptosis were reported in a substantial number of patients with 22q11.2DS
(20-67% and 4-6% respectively). Myopia was less frequently reported in
children with 22q11.2DS compared to the general population, but a similar
prevalence was found for adults.22 Correction of refractive errors in patients
with 22q11.2DS at an early stage is important because it can improve
reading abilities.29 Also, high refractive errors and anisometropia have been
associated with amblyopia.30, 31 Strabismus and amblyopia were frequently
reported in 22q11.2DS and may have direct clinical consequences. The
prevalence of strabismus and amblyopia is higher compared to the general
population (12-36% versus 1-3% and 2-11% versus 1-4% respectively),32-34
but comparable to what has been reported in children with intellectual
disabilities (14% for strabismus).23 This may suggest that these results
are not specific for a 22q11.2 deletion. Clinicians treating patients with
22q11.2DS should be aware of the increased prevalence of refractive
errors, strabismus and amblyopia and their influence on VA and language
and communication development if not treated correctly.35-37 Management
of amblyopia includes correction of refractive errors or occlusion therapy
and intervention preferably takes place as young as possible because of
reduced plasticity of the visual cortex after the age of seven years.38 The
management of strabismus also depends upon the etiology and includes
surgical and non-surgical strategies.
The most common ocular finding, though without clinical consequences, in
both the systematic review studies and our cross-sectional study, was retinal
vascular tortuosity (32-78%). There was one study that reported a prevalence
of 4% but did not provide additional information regarding measurement
method or an explanation for this very low prevalence compared to other
22q11.2DS studies.17 Retinal vascular tortuosity has a prevalence of 6% in
the general population and therefore may be considered as a typical finding
in patients with 22q11.2DS.39 Importantly, retinal vascular tortuosity has
been associated with other disorders including obstructive sleep apnea,40
diabetes mellitus41 and schizophrenia42 in non-22q11.2DS populations.
These disorders are also frequently reported in patients with 22q11.2DS.4,
43-45 In accordance with previous studies in 22q11.2DS, we did not find a
correlation between retinal vascular tortuosity and cardiac anomalies.7, 9
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