Ocular findings in the chromosome 22q11.2 deletion syndrome.
Publication/Presentation Date
4-1-2007
Abstract
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.
Volume
11
Issue
2
First Page
179
Last Page
182
ISSN
1091-8531
Published In/Presented At
Forbes, B. J., Binenbaum, G., Edmond, J. C., DeLarato, N., McDonald-McGinn, D. M., & Zackai, E. H. (2007). Ocular findings in the chromosome 22q11.2 deletion syndrome. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 11(2), 179–182. https://doi.org/10.1016/j.jaapos.2006.08.006
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
17140829
Department(s)
Department of Pediatrics
Document Type
Article