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Ocular findings in the chromosome 22q11.2 deletion syndrome
Journal article   Peer reviewed

Ocular findings in the chromosome 22q11.2 deletion syndrome

Brian J Forbes, Gil Binenbaum, Jane C Edmond, Nicole DeLarato, Donna M McDonald-McGinn and Elaine H Zackai
Journal of AAPOS, v 11(2), pp 179-182
01 Apr 2007
DOI: https://doi.org/10.1016/j.jaapos.2006.08.006
PMID: 17140829
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Adult Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 - genetics DiGeorge Syndrome - genetics Eye Abnormalities - diagnosis Eye Abnormalities - genetics Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Prospective Studies
To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients. Ocular abnormalities were evaluated prospectively in patients with 22q11.2 deletion at the Children's Hospital of Philadelphia between 1997 and 1999. 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%. 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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#3 Good Health and Well-Being

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Collaboration types
Domestic collaboration
Web of Science research areas
Ophthalmology
Pediatrics
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