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Results 61 - 70 of 523 for Abnormality of the eye
  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 brain (optic atrophy) and changes in ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  2. Autosomal dominant optic atrophy and cataract 
    ... of the lenses of the eyes (cataracts). This eye abnormality can develop anytime but typically appears in childhood. Other common eye problems in autosomal dominant optic atrophy and cataract ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  3. Smith-Magenis syndrome 
    ... lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  4. X-linked infantile nystagmus 
    ... with X-linked infantile nystagmus may have other eye abnormalities. For example, the region at the back of the eye responsible for sharp central vision may be underdeveloped ( ...
    https://medlineplus.gov/.../condition/x-linked-infantile-nystagmus - Genetics
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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