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Results 21 - 30 of 523 for Abnormality of the eye
  1. Aicardi syndrome 
    ... lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) ... 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
  2. Graves' disease 
    ... 50 percent of people with Graves' disease have eye abnormalities, which are known as Graves' ophthalmopathy. These eye ... eye problems and is associated with more severe eye abnormalities in people with Graves disease. HLA-DRB1 PTPN22 ...
    https://medlineplus.gov/genetics/condition/graves-disease - Genetics
  3. Boucher-Neuhäuser syndrome 
    ... third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  4. Focal dermal hypoplasia 
    ... any symptoms in people with focal dermal hypoplasia.Eye abnormalities are common in individuals with focal dermal hypoplasia, ... 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
  5. Knobloch syndrome 
    ... extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most ... BR. Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J. 2002 Apr 2;21(7):1535- ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  6. Niemann-Pick disease 
    ... to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be ... of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  7. LRP5 gene 
    ... to multiple bone fractures. Affected individuals also have eye abnormalities that cause vision impairment from birth or early ... normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. It is unclear ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  8. Weill-Marchesani syndrome 
    ... symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint ... 3 inches to 5 feet, 2 inches.An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  9. Autosomal dominant vitreoretinochoroidopathy 
    ... blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of ... affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ...
    https://medlineplus.gov/...osomal-dominant-vitreoretinochoroidopathy - Genetics
  10. Vici syndrome 
    ... the lenses of the eyes (cataracts) or other eye abnormalities, which may reduce their ability to see.Other, ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
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