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Results 1 - 10 of 177 for Optic atrophy 3
  1. Costeff syndrome 
    ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  2. Autosomal dominant optic atrophy and cataract 
    ... atrophy, cataract, and neurologic disorder Genetic Testing Registry: Optic atrophy 3 Autosomal dominant optic atrophy and cataract National Organization ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  3. OPA3 gene 
    ... FLJ22187 FLJ25932 MGA3 MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss.DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. Age-Related Eye Disease Studies (AREDS/AREDS2) From the National Institutes of Health (National Eye Institute)  
    Macular Degeneration/Treatments and Therapies ... Macular Degeneration ... National Eye Institute ... From the National Institutes of Health ... The Age-Related Eye Disease ...
    https://www.nei.nih.gov/...e-related-eye-disease-studies-aredsareds2 - External Health Links
  7. Familial dysautonomia 
    ... and worsening vision due to the shrinking size (atrophy) of optic nerves, which carry ... affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  8. WFS1 gene 
    ... ear cells. Histochem Cell Biol. 2003 Mar;119(3):247-56. doi: ... atrophy associated with hearing impairment and impaired glucose regulation ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  9. What Is Mitochondrial Disease? (United Mitochondrial Disease Foundation)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... United Mitochondrial Disease Foundation
    https://umdf.org/what-is-mitochondrial-disease-2 - External Health Links
  10. OPA1 gene 
    ... with OPA1 mutations. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. ... impair oxidative phosphorylation and mitochondrial fusion. Brain. 2008 ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
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