Norrie disease

Overview

What is Norrie disease?

Norrie disease is a rare genetic condition that causes blindness and other symptoms, usually in boys. Most boys who have Norrie disease are born blind. The majority of affected boys will also develop hearing loss during childhood. About one third to one half (30-50%) of boys with Norrie disease will also have developmental delay, intellectual disability, behavioral problems, or psychotic-like features.

Norrie disease is caused by mutations in the gene NDP. Typically, boys have one X chromosome and one Y chromosome, while girls have two X chromosomes. Boys therefore normally have one copy of NDP, while girls have two copies. A boy with Norrie disease has a mutation in his only copy of NDP. Girls who have a mutation in one copy of NDP are called carriers, and they usually do not have any symptoms of Norrie disease.

References
Show More Content Like This

More Overview Content

Are there other names for Norrie disease?

How many people have Norrie disease?

What is the usual abbreviation for Norrie disease?

Are there other names for Norrie disease?

Other names that might get used instead of Norrie disease include Norrie syndrome, episkopi blindness, Anderson-Warburg syndrome, atrophia bulborum hereditaria, fetal iritis syndrome, or Whitnall-Norman syndrome.

Norrie disease may also be called an NDP-related retinopathy. NDP-related retinopathy is a broader group of conditions that includes Norrie disease as well as other less-severe eye conditions that have a similar genetic cause.

References
How many people have Norrie disease?

Norrie disease is an extremely rare condition. We do not currently have a good estimate of how many people are affected with Norrie disease (as of May 30, 2016).

References
What is the usual abbreviation for Norrie disease?

Norrie disease is sometimes abbreviated as ND.

References
  • Sims KB. NDP-Related Retinopathies. 1999 Jul 30 [Updated 2014 Sep 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1331/[/link]

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me