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Results 11 - 20 of 28 for Cerebral visual impairment
  1. CEP290 gene 
    ... color. People with this disorder typically have severe visual impairment beginning near birth or shortly afterward. Variants in ... these cilia may lead to the severe, early visual impairment characteristic of Leber congenital amaurosis. More About This ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. GUCY2D gene 
    ... retina. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. Variants in ... is almost totally shut down, leading to severe visual impairment beginning very early in life in Leber congenital ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. Schinzel-Giedion syndrome 
    ... problems can include severe feeding problems, seizures, or visual or hearing impairment. They may also experience short pauses in breathing ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  4. Autosomal dominant congenital stationary night blindness 
    ... the rods cannot effectively transmit signals to the brain, leading to a lack of visual perception in low light. GNAT1 PDE6B RHO This ...
    https://medlineplus.gov/...ant-congenital-stationary-night-blindness - Genetics
  5. LIMK1 gene 
    ... play an important role in areas of the brain that are responsible for processing visual-spatial information (visuospatial constructive cognition). These parts of ...
    https://medlineplus.gov/genetics/gene/limk1 - Genetics
  6. HESX1 gene 
    ... development of structures at the front of the brain (the forebrain), including the nerves that carry visual information from the eyes to the brain (optic ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  7. PDE6C gene 
    ... closing of these channels triggers the transmission of visual signals to the brain. At least 19 mutations in the PDE6C gene ... essentially eliminate the activity of cone-specific phosphodiesterase. ... (low visual acuity), an increased sensitivity to light (photophobia), and ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  8. PDE6H gene 
    ... closing of these channels triggers the transmission of visual signals to the brain. At least one mutation in the PDE6H gene ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  9. MT-ND1 gene 
    ... are often limited to the nerve that relays visual information from the eye to the brain (the optic nerve). Additional genetic and environmental factors ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  10. Myoclonic epilepsy with ragged-red fibers 
    ... the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
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