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J AAPOS. 2014 Aug;18(4):393-5. doi: 10.1016/j.jaapos.2014.02.010. Epub 2014 Jul 3.

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

Author information

  • 1Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. Electronic address:
  • 2Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
  • 3Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
  • 4Department of Medical Genetics Radiology, Mayo Clinic, Rochester, Minnesota.
  • 5Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.

Erratum in

  • J AAPOS. 2014 Oct;18(5):518.


We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.

Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

[PubMed - indexed for MEDLINE]
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