Other Names for this Disease
- Atrophia bulborum hereditaria
- Episkopi blindness
- Norrie syndrome
- Norrie-Warburg syndrome
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 Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. 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.Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
Last updated: 3/11/2016
- Norrie disease. Genetics Home Reference (GHR). March 2007; https://ghr.nlm.nih.gov/condition/norrie-disease.
- Sims KB. Norrie Disease. National Organization for Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/norrie-disease/.
- Katherine B Sims. NDP-Related Retinopathies. GeneReviews. September 18, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1331/.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.