Ocular findings associated with chromosome 22q11.2 duplication.
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.
Division of Ophthalmology, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia. Electronic address: forbesb@email.chop.edu.
Brian J
BJ
Forbes
Division of Human Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Donna M
DM
McDonald-McGinn
Division of Ophthalmology, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Georgia
G
Wootton
Division of Ophthalmology, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Lindsay
L
Dawson
Division of Human Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Elaine
E
Zackai
Division of Ophthalmology, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Gil
G
Binenbaum
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010808:Physical Examination; D012189:Retrospective Studies