Norrie disease [Supplementary Concept]
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 PSYCHOSIS, and about one-third of patients develop SENSORINEURAL HEARING LOSS in the second decade. Growth failure and SEIZURES may also occur. Mutations in the NDP gene have been identified. OMIM: 310600
Date introduced: August 25, 2010
MeSH Unique ID: C537849
Heading Mapped to:
Entry Terms:
- Pseudoglioma
- Episkopi blindness
- Norrie syndrome
- Norrie-Warburg syndrome
- Anderson-Warburg Syndrome
- Fetal Iritis Syndrome
- Norrie's Disease
- Oligophrenia Microphthalmus
- Pseudoglioma Congenita
- Whitnall-Norman Syndrome
- Atrophia bulborum hereditaria
- Congenital Progressive Oculo-Acoustico-Cerebral Degeneration