Norrie disease

Home » Classic Medicine » Ophthalmology » Norrie disease
Norrie disease2016-11-27T15:01:32+00:00

Norrie disease 

OPHTHALMOLOGY

An autosomal recessive disorder (OMIM:310600) characterised by early childhood blindness due to degenerative and proliferative changes of the retina. About half of patients have progressive mental changes, often with psychotic features; one-third develop sensorineural deafness in the second decade of life. Some patients have more complex phenotypes, including growth failure, seizures, cataracts, and pseudoglioma. 

Molecular pathology Defects of NDP, which encodes Norrie Disease (Pseudoglioma) (popularly known as norrin), a secreted protein that activates the Wnt/beta-catenin pathway, cause Norrie disease.

Synonyms Anderson-Warburg syndrome, atrophia bulborum hereditaria, atrophia oculi congenita, bilateral retinal pseudotumor, congenital oculoacoustic dysplasia, Episkopi blindness, fetal iritis syndrome, oligophrenia-microphthalmos, Whitnall-Norman syndrome  

References http://www.uniprot.org/uniprot/Q00604

http://www.omim.org/entry/310600

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.