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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

61 tests are in the database for this condition.

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Clinical tests (61 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

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Imported from Human Phenotype Ontology (HPO)

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