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Results 1 - 7 of 7 for Leber congenital amaurosis 9
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 8 Genetic Testing Registry: Leber congenital amaurosis 9 Leber congenital amaurosis National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. CRB1 gene 
    ... afterward. Variants in the CRB1 gene account for 9 to 13 percent of all cases of this condition.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
  3. GUCY2D gene 
    ... 9):611-4. doi: 10.1136/jmg.38.9.611. No abstract available. Citation on PubMed ... to leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci. 2001 May;42( ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  4. 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
  5. 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
  6. 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
  7. 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