Norrie disease

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

Also Known As:

Anderson-Warburg Syndrome; Atrophia bulborum hereditaria; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration; Episkopi blindness; Fetal Iritis Syndrome; Norrie syndrome; Norrie's Disease; Norrie-Warburg syndrome; Oligophrenia Microphthalmus; Pseudoglioma; Pseudoglioma Congenita; Whitnall-Norman Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Blindness: 5548
        Norrie disease: 167
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Generalized Epilepsy: 896
        Infantile Spasms: 1454
        Norrie disease: 167
      - Epileptic Syndromes: 883
        Infantile Spasms: 1454
        Norrie disease: 167
- Norrie disease: 167
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Norrie disease: 167
- Vision Disorders: 2977
  - Blindness: 5548
    - Norrie disease: 167
- Hereditary Eye Diseases: 18
  - Retinal Degeneration: 4078
    - Norrie disease: 167
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Vision Disorders: 2977
        Blindness: 5548
        Norrie disease: 167
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Norrie disease: 167

Haruyuki Hasebe Selected Research

Haruyuki Hasebe Research Topics

Disease

Therapy/Procedure