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Diseases

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
More Names
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Treatment


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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.[1] 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;[1] however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome.[2] A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness.[2] 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.[2] 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.[2]

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.[1]

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.[1]
Last updated: 4/18/2012

References
  1. Katherine B Sims. NDP-Related Retinopathies. GeneReviews. July 23, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1331/. Accessed 4/18/2012.
  2. 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.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Norrie disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.