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Results 41 - 48 of 48 for Optic atrophy 9
  1. Boucher-Neuhäuser syndrome 
    ... syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in ... third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  2. Cerebrotendinous xanthomatosis 
    ... and disrupting nerve signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess lipid deposits ... xanthomatosis include clouding of the lenses of the eyes (cataracts) and chronic diarrhea in childhood; a reduced ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  3. CLPB gene 
    ... infections; and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  4. CLPB deficiency 
    ... deficiency have clouding of the lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy. ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  5. DLG4-related synaptopathy 
    ... can also occur. These include brain tissue loss (atrophy) and abnormalities of the tissue connecting the left ... a person's vision. Affected individuals can have eyes that do not point in the same direction ( ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  6. Spastic paraplegia type 15 
    ... over time. Additionally, there is often a loss (atrophy) of nerve cells in several parts of the ... with spastic paraplegia type 15 may have an eye condition called pigmentary maculopathy that often impairs vision. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
  7. Rothmund-Thomson syndrome 
    ... changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under ... develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  8. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... loss of nerve cells in the brain (cerebral atrophy).All individuals with FBXL4-related encephalomyopathic mtDNA depletion ... can include thick eyebrows; outside corners of the eyes that point upward (upslanting palpebral fissures); a broad ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
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