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Results 1 - 10 of 45 for Optic atrophy 6
  1. Costeff syndrome 
    ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  2. Wolfram syndrome 
    ... symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  3. Optic atrophy type 1 
    ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Roubertie A, Leboucq N, Picot ...
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  4. Spastic paraplegia type 2 
    ... intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration ... combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  5. Leber hereditary optic neuropathy 
    ... to their children. Hereditary optic neuroretinopathy Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic ...
    https://medlineplus.gov/.../leber-hereditary-optic-neuropathy - Genetics
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... carry information from the eyes to the brain (optic atrophy). Affected individuals can develop an increased sensitivity to ... blindness, dystonia, fractures, and mental deficiency Deafness-dystonia-optic atrophy syndrome Jensen syndrome Mohr-Tranebjærg syndrome Opticoacoustic nerve ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. RAB18 deficiency 
    ... visual information from the eyes to the brain (optic atrophy). The eye problems impair vision in affected individuals. ... cataracts, microphthalmia, and small pupils. They have milder optic atrophy and cortical visual impairment than people with Warburg ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  8. 3-methylglutaconyl-CoA hydratase deficiency 
    ... legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  9. Charcot-Marie-Tooth disease 
    ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  10. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy 
    ... carry information from the eyes to the brain (optic atrophy); clouding of the lenses of the eyes (cataracts); numbness, tingling, or pain in the arms ...
    https://medlineplus.gov/...cerebellar-ataxia-deafness-and-narcolepsy - Genetics
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