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Diseases

Genetic and Rare Diseases Information Center (GARD)

Norrie disease


Other Names for this Disease
  • Atrophia bulborum hereditaria
  • Pseudoglioma
  • Episkopi blindness
  • Norrie syndrome
  • Norrie-Warburg syndrome
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

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[1][2] Additional symptoms may occur in some cases, although this varies even among individuals in the same family.[2] Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features.[2][3] Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern.[1][2] Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.[2]  
Last updated: 3/11/2016

References

  1. Norrie disease. Genetics Home Reference (GHR). March 2007; https://ghr.nlm.nih.gov/condition/norrie-disease.
  2. Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/norrie-disease/.
  3. Katherine B Sims. NDP-Related Retinopathies. GeneReviews. September 18, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1331/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Norrie disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Norrie disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Atrophia bulborum hereditaria
  • Pseudoglioma
  • Episkopi blindness
  • Norrie syndrome
  • Norrie-Warburg syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.