title: Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.
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.
authors.affiliation: Department of Radiology, University of Minnesota, USA.
authors.forename: Seyedmehdi
authors.initials: S
authors.lastname: Payabvash
authors.affiliation: Department of Ophthalmology, University of Minnesota, USA.
authors.forename: Jill S
authors.initials: JS
authors.lastname: Anderson
authors.affiliation: Department of Radiology, University of Minnesota, USA nasc0001@umn.edu.
authors.forename: David R
authors.initials: DR
authors.lastname: Nascene
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D009898:Optic Disk / Q000473:pathology; D010547:Persistent Fetal Circulation Syndrome / Q000235:genetics*; D012162:Retinal Degeneration; D012164:Retinal Diseases / Q000151:congenital; D012166:Retinal Hemorrhage / Q000209:etiology / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014822:Vitreous Body / Q000473:pathology
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins
keywords: Norrie disease; Persistent fetal vasculature; leukocoria