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Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.

Subhi Talal YounesJames Mason ShiflettKristin WeaverAndrew SmithBetty HerringtonCharlotte TaylorKartik Reddy
Published in: Ophthalmic genetics (2021)
Background: Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizure disorders. However, to date, no association with neurological mass lesions has been described.Materials and methods: Case reporResults: Here, we report a case of a patient with Norrie disease who presented with an enhancing mass of the choroid plexus that spontaneously diminished in size. Conclusion: This report suggests watchful waiting as a reasonable clinical approach to choroid plexus lesions in patients with Norrie disease.
Keyphrases
  • intellectual disability
  • diabetic retinopathy
  • ultrasound guided
  • gene expression
  • genome wide
  • brain injury
  • blood brain barrier