Norrie's disease

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blindness, deafness, mental retardation

Facts (generated by robot; please edit if you find it inaccurate)

  • A report on six children with Norrie's disease is presented.
  • Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration.
  • Norrie's disease is characterized by retinal dysplasia and abnormal retinal vascularization, and mice with targeted disruption of the gene that encodes norrin protein lack deep intraretinal vessels47.
  • PAPERS Norrie's disease: a prospective study of development HM Goodyear, PM Sonksen and H McConachie Department of Developmental Paediatrics, Wolfson Centre, Hospital for Sick Children, London.
  • Probably Norrie's disease due to mutation.
  • Subscription Case Reports Indian Pediatrics 1998;35:783-786 Unusual Presentation of Norrie's Disease with Hypomagnesemia M.
  • Norrie's disease: a new hereditary bilateral pseudotumour of the retina.

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