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Results 1 - 10 of 10 for Leber congenital amaurosis 7
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  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 6 Genetic Testing Registry: Leber congenital amaurosis 7 Genetic Testing Registry: Leber congenital amaurosis 8 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. Citation on ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. RPE65 gene 
    ... S A. 2008 Sep 30;105(39):15112-7. doi: 10.1073/pnas.0807027105. Epub 2008 Sep 22. Citation on PubMed or Free article on PubMed Central den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  4. CEP290 gene 
    ... Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. Epub 2010 ... congenital amaurosis and delineation of the associated phenotype. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  5. 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
  6. 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
  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. 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
  10. Disease Treatments (American Society of Gene & Cell Therapy)  
    Genes and Gene Therapy/Specifics ... Genes and Gene Therapy ... American Society of Gene & Cell Therapy
    https://patienteducation.asgct.org/disease-treatments - External Health Links