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Results 51 - 60 of 389 for Abnormality of the eye
  1. Tay-Sachs disease 
    ... vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which is identified by eye examination, is characteristic of this disorder. Children with ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. Sandhoff disease 
    ... vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  3. Hyperphosphatemic familial tumoral calcinosis 
    ... period of time.Other features of HFTC include eye abnormalities such as calcium buildup in the clear front covering of the eye (corneal calcification) or angioid streaks that occur when ...
    https://medlineplus.gov/...rphosphatemic-familial-tumoral-calcinosis - Genetics
  4. Kaufman oculocerebrofacial syndrome 
    ... affected individuals never acquire the ability to speak.Eye abnormalities and their effect on vision vary among people ... droopy eyelids (ptosis), and outside corners of the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  5. Dyskeratosis congenita 
    ... occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become ... movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  6. TRNT1 deficiency 
    ... days, although the frequency can decrease with age.Eye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  7. Lowe syndrome 
    ... in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  8. GM2 activator deficiency 
    ... become unable to respond to their environment. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of the infantile form of ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  9. Sialidosis 
    ... including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  10. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 
    ... nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure ...
    https://medlineplus.gov/...ression-rieger-anomaly-and-teething-delay - Genetics
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