A rare case of WAGR syndrome with Peter anomaly

Authors

  • Rohit S. Adyanthaya Wilmer Ophthalmological Institute, the Johns Hopkins University School of Medicine, Baltimore, Maryland
  • Michael X. Repka Wilmer Ophthalmological Institute, the Johns Hopkins University School of Medicine, Baltimore, Maryland

DOI:

https://doi.org/10.16964/er.v1i1.51

Keywords:

WAGR syndrome, Peter anomaly.

Abstract

We report a case of the WAGR syndrome associated with the Peter anomaly. A 6-day-old baby boy was found to have bilateral corneal opacities, 360 degrees of iris hypoplasia and cataracts. Physical examination revealed bilateral undescended testicles. Family history was unremarkable and genetic testing revealed a deletion 11p11.2-13 indicating WAGR syndrome. A Wilms tumor developed and was removed at age 2 years. There was moderate developmental delay. The occurrence of WAGR syndrome with Peter anomaly has been reported in three other patients to our knowledge.

Author Biographies

Rohit S. Adyanthaya, Wilmer Ophthalmological Institute, the Johns Hopkins University School of Medicine, Baltimore, Maryland

Vitreoretinal Fellow

Valley Retina Institute
Mcallen, Texas

Michael X. Repka, Wilmer Ophthalmological Institute, the Johns Hopkins University School of Medicine, Baltimore, Maryland

Professor of Pediatric Ophthalmology and Strabismus

Wilmer Eye institute

Johns Hopkins University

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Published

2011-08-16

Issue

Section

Case Reports