Ocular findings in the chromosome 22q11.2 deletion syndrome.


PURPOSE To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients. METHODS Ocular abnormalities were evaluated prospectively in patients with 22q11.2 deletion at the Children's Hospital of Philadelphia between 1997 and 1999. RESULTS Ninety patients with confirmed 22q11.2 deletion were examined. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. CONCLUSIONS The high incidence of ocular conditions that can potentially affect visual development suggest that children with 22q11.2 deletion should undergo a comprehensive eye examination upon diagnosis of the condition with follow-up as indicated by the findings in each case. In addition, knowledge of the ocular findings, in conjunction with certain cardiac, otolaryngologic, immunologic, and other systemic findings, may alert physicians to the possibility of a chromosome 22q11.2 deletion.


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@article{Forbes2007OcularFI, title={Ocular findings in the chromosome 22q11.2 deletion syndrome.}, author={Brian Forbes and Gil Binenbaum and Jane C Edmond and Nicole H. DeLarato and Donna M McDonald-McGinn and Elaine H. Zackai}, journal={Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus}, year={2007}, volume={11 2}, pages={179-82} }