Page 152 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is a multi-system disorder
with an estimated prevalence of 1:3000 live births. Manifestations show
a marked variability in expression and include speech- and language
delay, intellectual disability and neuropsychiatric disorders. We aim to
provide an overview of ocular findings in 22q11.2DS in order to optimize
recommendations for ophthalmic screening. Therefore, we combined
results from a systematic literature review with results from a multicenter
cross-sectional study of patients with 22q11.2DS who were assessed by
an ophthalmologist. Our systematic literature search yielded four articles,
describing 270 patients. We included 132 patients in our cross-sectional
study (median age 8.9 (range 0-56) years). Most reported ocular findings
were retinal vascular tortuosity (32-78%), posterior embryotoxon (22-50%),
eye lid hooding (20-67%), strabismus (12-36%), amblyopia (2-11%), ptosis
(4-6%) and refractive errors, of which hyperopia (6-48%) and astigmatism (3-
23%) were most common. Visual acuity was (near) normal in most patients
(91-94%). In conclusion, refractive errors, strabismus and amblyopia are
treatable conditions that are frequently present in patients with 22q11.2DS
and should be corrected at an early stage. Therefore, in 22q11.2DS, we
recommend ophthalmic and orthoptic screening at the age of three years
or at diagnosis, and a low-threshold referral in adults.
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