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

Ophthalmic Genet. 2021 Jun;42(3):344-348. doi: 10.1080/13816810.2021.1894459. Epub 2021 Mar 1.

Abstract

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.

Keywords: CNS tumors; Norrie disease; case report.

Publication types

  • Case Reports

MeSH terms

  • Blindness / congenital*
  • Blindness / diagnosis
  • Blindness / genetics
  • Brain Diseases / diagnostic imaging*
  • Brain Diseases / physiopathology
  • Choroid Plexus / diagnostic imaging*
  • Choroid Plexus / physiopathology
  • Eye Proteins / genetics*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Gestational Age
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Nervous System Diseases / diagnosis*
  • Nervous System Diseases / genetics
  • Retinal Degeneration / diagnosis*
  • Retinal Degeneration / genetics
  • Spasms, Infantile / diagnosis*
  • Spasms, Infantile / genetics

Substances

  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins

Supplementary concepts

  • Norrie disease