Ocular findings in the chromosome 22q11.2 deletion syndrome
Received 8 November 2004; accepted 24 April 2006. published online 12 December 2006.
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.
aDivision of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
fDivision of Clinical Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
bScheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania
cTexas Children’s Hospital, Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, Texas
dSection of Ophthalmology, St. Christopher’s Hospital for Children, Philadelphia, Pennsylvania
Reprint requests: Brian J. Forbes, MD, PhD, Department of Pediatric Ophthalmology, Children’s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104
1 Dr. Binenbaum is supported by a Heed Ophthalmic Foundation Fellowship and an Association of Heed Fellows Fellowship.
ABSTRACT