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Results 1 - 10 of 13 for "Leber's" amaurosis
  1. ... congenitalis LCA Leber abiotrophy Leber congenital tapetoretinal degeneration Leber's amaurosis Genetic Testing Registry: Leber congenital amaurosis Genetic Testing ...
  2. ... 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 ...
  3. ... GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10): ...
  4. ... 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> ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... number of diseases, including an eye disorder called Leber congenital amaurosis and a muscle disorder called spinal muscular atrophy . ...
  8. ... as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin- ...
  9. ... treat inherited disorders like spinal muscular atrophy and Leber congenital amaurosis . Learn how to cite this page
  10. ... pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the ...
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