Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene

Seyedmehdi Payabvash, Jill S. Anderson, David R. Nascene

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We report a case of a 7-week-old boy with bilateral leukocoria and asymmetric microphthalmia who was found to have Norrie disease. Symmetrically hyperdense globes with no evidence of calcification were seen on CT scan. The MRI showed bilateral retinal hemorrhages resulting in conical vitreous chambers - narrow at the optic disc and widened toward the lens - characteristic of persistent fetal vasculature. Genetic evaluation revealed a previously undescribed mutation in the Norrie disease protein gene.

Original languageEnglish (US)
Pages (from-to)623-627
Number of pages5
JournalNeuroradiology Journal
Volume28
Issue number6
DOIs
StatePublished - Dec 1 2015

Bibliographical note

Publisher Copyright:
© SAGE Publications.

Keywords

  • Norrie disease
  • Persistent fetal vasculature
  • leukocoria

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