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Results 1 - 10 of 102 for Optic atrophy 5
  1. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Leukodystrophy ...
  2. ... condition. More About This Health Condition At least five mutations in the OPA3 gene have been found to cause Costeff syndrome. This condition is characterized by vision loss due to optic nerve atrophy, delayed development, and movement problems. Costeff syndrome is ...
  3. ... Bille M, Rosenberg T, Tranebjaerg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet. 2006 May;43(5):435-40. doi: 10.1136/jmg.2005.034892. ...
  4. Macular Degeneration/Treatments and Therapies ... Macular Degeneration ... National Eye Institute ... From the National Institutes of Health ... The Age-Related Eye Disease ...
  5. ... intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Symptoms usually become apparent between the ages of 1 and 5 years; those affected are typically able to walk ...
  6. ... Registry: Arts syndrome Lethal ataxia with deafness and optic atrophy ... ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993 May;33(5):535-9. doi: 10.1002/ana.410330519. Citation ...
  7. ... also include speech difficulties (dysarthria) and problems controlling eye movement.Multiple system ... Multiple system atrophy is ...
  8. ... Piao CH, Terasaki H, Miyake Y. Retinal and optic disc atrophy associated with a ... G1007R, and R1049W. Neuroscience. 2007 Dec 5;150(2):335-45. doi: 10.1016/j. ...
  9. ... CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ... OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; ...
  10. ... data. Hum Mutat. 2015 Jan;36(1):20-5. doi: 10.1002/humu.22703. Epub 2014 Dec 1. ... dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. ...
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