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

Seyedmehdi Payabvash; Jill S Anderson; David R Nascene

doi:10.1177/1971400915609350

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

Neuroradiol J. 2015 Dec;28(6):623-7. doi: 10.1177/1971400915609350. Epub 2015 Oct 12.

Authors

Seyedmehdi Payabvash¹, Jill S Anderson², David R Nascene³

Affiliations

¹ Department of Radiology, University of Minnesota, USA.
² Department of Ophthalmology, University of Minnesota, USA.
³ Department of Radiology, University of Minnesota, USA [email protected].

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.

Keywords: Norrie disease; Persistent fetal vasculature; leukocoria.

Publication types

Case Reports

MeSH terms

Blindness / congenital*
Blindness / genetics
Eye Proteins / genetics*
Genetic Diseases, X-Linked / genetics*
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Nervous System Diseases / genetics*
Optic Disk / pathology
Persistent Fetal Circulation Syndrome / genetics*
Retinal Degeneration
Retinal Diseases / congenital
Retinal Hemorrhage / etiology
Retinal Hemorrhage / genetics
Spasms, Infantile / genetics*
Tomography, X-Ray Computed
Vitreous Body / pathology

Substances

Eye Proteins
NDP protein, human
Nerve Tissue Proteins

Supplementary concepts

Norrie disease
Retinal Nonattachment, Nonsyndromic Congenital