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Results 1 - 10 of 14 for Leber congenital amaurosis 1
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  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. Leber Congenital Amaurosis (American Association for Pediatric Ophthalmology and Strabismus)  
    Retinal Disorders/Specifics ... Retinal Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, ...
    https://www.aapos.org/glossary/leber-congenital-amaurosis - External Health Links
  7. 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
  8. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  9. Nystagmus (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Movement Disorders/Start Here ... Eye Movement Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
    https://www.aapos.org/glossary/nystagmus - External Health Links
  10. 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
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