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Results 91 - 100 of 124 for Abnormality of the eye
  1. MT-TL1 gene 
    ... Less commonly, affected individuals have problems with their eyes, muscles, heart, or kidneys. The MT-TL1 gene ... gene are responsible for some cases of an eye condition called progressive external ophthalmoplegia. This disorder weakens ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  2. CEP290 gene 
    ... in many types of cells, including in the eye's light receptor cells (photoreceptors). Although this protein' ... Leber congenital amaurosis. Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. POLG gene 
    ... the POLG gene are frequently responsible for an eye condition called progressive external ophthalmoplegia, another POLG-related disorder. This condition weakens the muscles that control eye movement and causes the eyelids to droop (ptosis). ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  4. GJB2 gene 
    ... why some people with this gene mutation have eye problems while others do not. More About This ... is inflammation of the front surface of the eye (the cornea); thick, reddened patches of dry and ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  5. RPGR gene 
    ... light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in ... AF, Shu X. Focus on Molecules: RPGR. Exp Eye Res. 2007 Jul;85(1):1-2. doi: ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  6. SLC4A1 gene 
    ... yellowing of the skin and whites of the eyes (jaundice), gallstones, and an enlarged spleen (splenomegaly). More ... S, Kingwatanakul P, Thongnoppakhun W, Yenchitsomanus PT. Hematological abnormalities in patients with distal renal tubular acidosis and ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  7. WDR35 gene 
    ... light-sensitive tissue at the back of the eye (the retina). Cilia also play a role in ... and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  8. SOX2 gene 
    ... is especially important for the development of the eyes. This protein regulates the activity of other genes ... regulate genes essential for normal development of the eyes and other parts of the body. Abnormal development ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  9. TMCO1 gene 
    ... activity are associated with the development of an eye disorder called primary open-angle glaucoma, which is ... from damage to the nerves that connect the eyes and the brain (the optic nerves) and typically ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  10. CFH gene 
    ... in people with age-related macular degeneration, an eye disease that is a common cause of vision ... light-sensitive tissue at the back of the eye (the retina). This buildup, together with other changes ...
    https://medlineplus.gov/genetics/gene/cfh - Genetics
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