Ocular findings associated with chromosome 22q11.2 duplication.

Abstract

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures, 1 with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.

• Authors: Brian J Forbes, Donna M McDonald-McGinn, Georgia Wootton, Lindsay Dawson, Elaine Zackai, Gil Binenbaum
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 20 Issue 3 Pg. 278-80 (06 2016) ISSN: 1528-3933 [Electronic] United States
• PMID: 27108843 (Publication Type: Journal Article)
• Copyright: Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Topics

• Abnormalities, Multiple (diagnosis, surgery)
• Adolescent
• Child
• Child, Preschool
• Chromosome Duplication
• Chromosomes, Human, Pair 22
• DiGeorge Syndrome (diagnosis)
• Eye Abnormalities (diagnosis, surgery)
• Female
• Humans
• Infant
• Male
• Physical Examination
• Retrospective Studies