Norrie Disease

S. Tammy Hsu, Grant Justin, Lejla Vajzovic*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Norrie disease disease is a rare X-linked recessive disorder characterized by abnormal retinal development and manifesting as congenital blindness or early childhood blindness in male infants. This chapter discusses the clinical features, genetic testing, differential diagnoses, and management of Norrie disease.

Original languageEnglish
Title of host publicationPediatric Vitreoretinal Surgery
PublisherSpringer International Publishing
Number of pages9
ISBN (Electronic)9783031145063
ISBN (Print)9783031145056
StatePublished - 1 Jan 2023
Externally publishedYes


  • NDP
  • Norrie disease
  • Retinal detachment


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