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Results 1 - 10 of 131 for Optic nerve aplasia
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  1. NGLY1-congenital disorder of deglycosylation 
    ... problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  2. CASK-related intellectual disability 
    ... loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  3. Ocular albinism 
    ... to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  4. Triple A syndrome 
    ... individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  5. Duane-radial ray syndrome 
    ... Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  6. Aicardi syndrome 
    ... a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals.Some people ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  7. Beta-ureidopropionase deficiency 
    ... head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  8. Thiamine-responsive megaloblastic anemia syndrome 
    ... a person needs.Some individuals with TRMA have abnormalities of the eye, including optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  9. Bohring-Opitz syndrome 
    ... individuals may have severe nearsightedness (high myopia) or abnormalities in the light-sensitive tissue at the back of the eye (the retina) or the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome - Genetics
  10. Focal dermal hypoplasia 
    ... This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
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