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Results 1 - 10 of 10 for Leber congenital amaurosis 10
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 1 Genetic Testing Registry: Leber congenital amaurosis 10 Genetic Testing Registry: Leber congenital amaurosis 11 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. GUCY2D gene 
    ... GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. CRB1 gene 
    ... Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  4. CEP290 gene 
    ... CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. RPE65 gene 
    ... in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6.3088. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  6. 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. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - 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. 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
  9. 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
  10. CRX gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leber congenital amaurosis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crx - Genetics