U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Atrophia bulborum hereditaria

Atrophia bulborum hereditaria

Synonyms
Anderson-Warburg syndrome; Episkopi blindness; Fetal iritis syndrome; Norrie Disease; Norrie Disease (ND); Norrie syndrome; Norrie-Warburg syndrome; Pseudoglioma
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992). Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (see Duke, 1958). [from OMIM]

Available tests

66 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EVR2, FEVR, ND, NDP
    Summary: norrin cystine knot growth factor NDP

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.