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Results 1 - 8 of 8 for Leber congenital amaurosis 1
  1. Leber congenital amaurosis 
    ... Testing Registry: Leber congenital amaurosis Genetic Testing Registry: Leber congenital amaurosis 1 Genetic Testing Registry: Leber congenital amaurosis 10 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. Senior-Løken syndrome 
    ... SG. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. GUCY2D gene 
    ... abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci. 2001 May;42( ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  4. CRB1 gene 
    ... HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001 Jul; ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  5. RPE65 gene 
    ... Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Citation on PubMed Morimura H, Fishman GA, Grover ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. 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
  7. 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
  8. Keratoconus 
    ... be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is part ...
    https://medlineplus.gov/genetics/condition/keratoconus - Genetics