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Genetic and Rare Diseases Information Center (GARD)

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Norrie disease


Other Names for this Disease

  • Anderson-Warburg syndrome
  • Atrophia bulborum hereditaria
  • Episkopi blindness
  • Fetal iritis syndrome
  • NDP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Norrie disease?

What causes Norrie disease?

How might Norrie disease be treated?

What is Norrie disease?

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[1] Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Some affected individuals may develop hearing loss and exhibit cognitive abnormalities such as developmental delays or behavioral issues.[2] Mutations in the NDP gene cause Norrie disease. It is inherited in an X-linked recessive pattern.[1][2]
Last updated: 2/15/2010

What causes Norrie disease?

Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the norrin protein seems to play an important role in the development of retinal cells in the eye. It is also involved in creating a blood supply to tissues of the retina and the inner ear, and the development of other body systems. Mutations in the NDP gene can prevent the norrin protein from working correctly, resulting in the signs and symptoms of Norrie disease.[3]
Last updated: 11/30/2010

How might Norrie disease be treated?

Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight.[4] Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention;[4] however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome.[5] A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness.[5] The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed.[5] The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach.[5]

In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain.[4]

For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.[4]
Last updated: 4/18/2012

References
  1. Norrie disease. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=norriedisease. Accessed 2/15/2010.
  2. Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Norrie%20Disease. Accessed 2/15/2010.
  3. Norrie disease. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition/norrie-disease. Accessed 11/29/2010.
  4. Katherine B Sims. NDP-Related Retinopathies. GeneReviews. July 23, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1331/. Accessed 4/18/2012.
  5. Clement C. Chow et al. Laser Photocoagulation at Birth Prevents Blindness in Norrie's Disease Diagnosed Using Amniocentesis. Ophthalmology. December 2010; 117(12):2402-2406.


Other Names for this Disease
  • Anderson-Warburg syndrome
  • Atrophia bulborum hereditaria
  • Episkopi blindness
  • Fetal iritis syndrome
  • NDP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.