FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion

Maria D. Garcia, Camila V. Ventura, Audina M. Berrocal

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome. This is the first report describing retinal findings associated with this combination of genetic alterations. Patients with 11q deletion syndrome or 16p13 microdeletions should undergo ophthalmologic examination. [J Pediatr Ophthalmol Strabismus. 2017;54:e71-e74.].

Original languageEnglish (US)
Pages (from-to)e71-e74
JournalJournal of Pediatric Ophthalmology and Strabismus
Volume54
DOIs
StatePublished - Nov 17 2017

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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