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Results 21 - 30 of 389 for Abnormality of the eye
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Pseudoxanthoma elasticum 
    ... joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells ... the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks ...
    https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum - Genetics
  9. Oculofaciocardiodental syndrome 
    ... features (facio-), heart (cardio-), and teeth (dental). The eye abnormalities associated with OFCD syndrome can affect one or ... eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.People ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  10. Xeroderma pigmentosum 
    ... noncancerous growths on the eye. Many of these eye abnormalities can impair vision. About 30 percent of people ... in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, ...
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum - Genetics
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