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Results 1 - 10 of 13 for Leber congenital amaurosis
  1. Leber congenital amaurosis 
    Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. Senior-Løken syndrome 
    ... called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in ... fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. CEP290 gene 
    ... the CEP290 gene have been found to cause Leber congenital amaurosis. Leber congenital amaurosis is an eye disorder that primarily affects the ... 15 to 22 percent of all cases of Leber congenital amaurosis. A particular genetic change, written as 2991+1655A> ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. CRB1 gene 
    ... the CRB1 gene have been found to cause Leber congenital amaurosis. Leber congenital amaurosis is an eye disorder that primarily affects the ... Most of the CRB1 gene variants responsible for Leber congenital amaurosis lead to an abnormally short, nonfunctional version of ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  5. GUCY2D gene 
    ... the GUCY2D gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ... cases of this condition.The variants that cause Leber congenital amaurosis occur in both copies of the GUCY2D gene ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  6. RPE65 gene 
    ... the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ... visual impairment beginning very early in life in Leber congenital amaurosis. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  7. What is gene therapy?: MedlinePlus Genetics 
    ... number of diseases, including an eye disorder called Leber congenital amaurosis and a muscle disorder called spinal muscular atrophy . ...
    https://medlineplus.gov/genetics/understanding/therapy/genetherapy - Genetics
  8. Farsightedness 
    ... as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin- ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics
  9. Is gene therapy safe?: MedlinePlus Genetics 
    ... treat inherited disorders like spinal muscular atrophy and Leber congenital amaurosis . Learn how to cite this page
    https://medlineplus.gov/genetics/understanding/therapy/safety - Genetics
  10. Mainzer-Saldino syndrome 
    ... pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
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