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Chromosome 22q11.2 deletion syndrome associated with refractive errors, strabismus
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Refractive errors and strabismus are common in children with 22q11.2 deletion syndrome, but serious ocular involvement is uncommon.
The prospective study included 16 patients between 4 months old and 18 years old with 22q11.2 deletion syndrome. The patient cohort underwent uncorrected and best corrected visual acuity testing; stereoscopic vision, biomicroscopic and indirect fundus examinations; and ocular motility testing.
At least one ocular abnormality was detected in all subjects. The most common findings were increased tortuosity of retinal vasculature (56.2%), narrow palpebral fissure (50%), eyelid hooding (50%), posterior embryotoxon (50%) and telecanthus (37.5%).
Twelve eyes of seven patients were emmetropic, while refractive errors were found in 20 eyes of 11 patients. Strabismus was also detected in six patients.
“Although serious ocular involvement is uncommon, refractive errors and strabismus are more common in children with 22q11.2 deletion. Therefore, children with chromosome 22q11.2 deletion syndrome should be referred to ophthalmology clinics for a comprehensive eye examination,” the study authors said. – by Robert Linnehan
Disclosure: The authors report no relevant financial disclosures.
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Gokturk B, et al. J Pediatr Ophthalmol Strabismus. 2016;doi:10.3928/01913913-20160427-01.
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