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Results 1 - 10 of 58 for Optic atrophy 5
  1. OPA3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  2. WFS1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  3. Spastic paraplegia type 2 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  4. Arts syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  5. Multiple system atrophy 
    ... also include speech difficulties (dysarthria) and problems controlling eye movement.Multiple system ... Multiple system atrophy is ...
    https://medlineplus.gov/genetics/condition/multiple-system-atrophy - Genetics
  6. Charcot-Marie-Tooth disease 
    ... CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ... OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  7. OPA1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  8. Costeff syndrome 
    ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  9. MFN2 gene 
    ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  10. 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
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