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