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Results 61 - 70 of 389 for Abnormality of the eye
  1. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... of the brain known as the cerebellar vermis. Eye abnormalities that can occur include a gap or hole in one of the structures of the eye (coloboma), underdevelopment (hypoplasia) or breakdown (atrophy) of the ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  2. Joubert syndrome 
    ... symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. X-linked juvenile retinoschisis 
    ... blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness. The ... the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics
  4. Encephalocraniocutaneous lipomatosis 
    ... coloring (pigmentation) are also possible.The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. These growths can be present in one or both eyes and may affect vision.About two-thirds of ...
    https://medlineplus.gov/.../encephalocraniocutaneous-lipomatosis - Genetics
  5. Walker-Warburg syndrome 
    ... Some individuals with Walker-Warburg syndrome experience seizures.Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused ... pressure in the eyes (buphthalmos), clouding of the lenses of the eyes ( ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  6. Microphthalmia with linear skin defects syndrome 
    ... this spreading cell damage may lead to the eye abnormalities and other signs and symptoms of microphthalmia with ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  7. COL4A1-related brain small-vessel disease 
    ... COL4A1-related brain small-vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the colored part of the eye (iris) and a pupil that is not in ...
    https://medlineplus.gov/...col4a1-related-brain-small-vessel-disease - Genetics
  8. Peters anomaly 
    ... corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are ...
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  9. Hystrix-like ichthyosis with deafness 
    ... disorder with similar features and the addition of eye abnormalities, many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not known why some people with this mutation have eye problems while others do not. GJB2 This condition ...
    https://medlineplus.gov/.../hystrix-like-ichthyosis-with-deafness - Genetics
  10. Horner syndrome 
    ... 2 do not generally have iris heterochromia.The abnormalities in the eye area related to Horner syndrome do not generally ...
    https://medlineplus.gov/genetics/condition/horner-syndrome - Genetics
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