Autosomal Dominant Optic Atrophy

Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.

Also Known As:

Dominant Optic Atrophy; Optic Atrophy, Autosomal Dominant; Autosomal Dominant Optic Atrophy Kjer Type; Kjer Type Optic Atrophy; Kjer's Optic Atrophy; Kjer-Type Optic Atrophy; Optic Atrophy 1; Optic Atrophy Type 1; Optic Atrophy, Juvenile; Optic Atrophy, Kjer Type; Atrophies, Juvenile Optic; Atrophies, Kjer-Type Optic; Atrophy, Juvenile Optic; Atrophy, Kjer's Optic; Atrophy, Kjer-Type Optic; Dominant Optic Atrophies; Juvenile Optic Atrophies; Juvenile Optic Atrophy; Kjer Optic Atrophy; Kjer-Type Optic Atrophies; Kjers Optic Atrophy; Optic Atrophies, Dominant; Optic Atrophies, Juvenile; Optic Atrophies, Kjer-Type; Optic Atrophy 1s; Optic Atrophy, Dominant; Optic Atrophy, Kjer's; Optic Atrophy, Kjer-Type; Optic Atrophy, Hereditary, Autosomal Dominant

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Optic Atrophies: 7
      - Autosomal Dominant Optic Atrophy: 427
- Cranial Nerve Diseases: 554
  - Optic Nerve Diseases: 2663
    - Optic Atrophy: 819
      - Hereditary Optic Atrophies: 7
        Autosomal Dominant Optic Atrophy: 427
Eye Diseases: 3522
- Optic Nerve Diseases: 2663
  - Optic Atrophy: 819
    - Hereditary Optic Atrophies: 7
      - Autosomal Dominant Optic Atrophy: 427
- Hereditary Eye Diseases: 18
  - Hereditary Optic Atrophies: 7
    - Autosomal Dominant Optic Atrophy: 427
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Optic Atrophies: 7
      - Autosomal Dominant Optic Atrophy: 427
  - Hereditary Eye Diseases: 18
    - Hereditary Optic Atrophies: 7
      - Autosomal Dominant Optic Atrophy: 427
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Autosomal Dominant Optic Atrophy: 427

Ambre M Bertholet Selected Research

Ambre M Bertholet Research Topics

Disease

Drug/Important Bio-Agent (IBA)