Leber Hereditary Optic Atrophy

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

Also Known As:

Leber's Hereditary Optic Neuropathy; Leber Optic Atrophy; Optic Atrophy, Hereditary, Leber; Hereditary Optic Neuroretinopathy; Leber Hereditary Optic Neuropathy; Leber Optic Atrophy and Dystonia; Leber's Disease; Leber's Hereditary Optic Atrophy; Leber's Optic Atrophy; Leber's Optic Neuropathy; Optic Atrophy, Leber Type; Optic Atrophy, Leber, Hereditary; Disease, Leber's; Diseases, Leber's; Hereditary Optic Neuroretinopathies; Leber Disease; Leber Optic Neuropathy; Leber's Diseases; Lebers Disease; Lebers Optic Neuropathy; Neuropathy, Leber's Optic; Neuroretinopathies, Hereditary Optic; Neuroretinopathy, Hereditary Optic; Optic Atrophy, Leber; Optic Neuropathy, Leber's; Optic Neuroretinopathies, Hereditary; Optic Neuroretinopathy, Hereditary

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Optic Atrophies: 7
      - Leber Hereditary Optic Atrophy: 948
- Cranial Nerve Diseases: 564
  - Optic Nerve Diseases: 2736
    - Optic Atrophy: 839
      - Hereditary Optic Atrophies: 7
        Leber Hereditary Optic Atrophy: 948
Eye Diseases: 3620
- Optic Nerve Diseases: 2736
  - Optic Atrophy: 839
    - Hereditary Optic Atrophies: 7
      - Leber Hereditary Optic Atrophy: 948
- Hereditary Eye Diseases: 19
  - Hereditary Optic Atrophies: 7
    - Leber Hereditary Optic Atrophy: 948
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Optic Atrophies: 7
      - Leber Hereditary Optic Atrophy: 948
  - Hereditary Eye Diseases: 19
    - Hereditary Optic Atrophies: 7
      - Leber Hereditary Optic Atrophy: 948
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Leber Hereditary Optic Atrophy: 948

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Disease

Drug/Important Bio-Agent (IBA)