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Results 1 - 9 of 9 for Leber congenital amaurosis 11
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 10 Genetic Testing Registry: Leber congenital amaurosis 11 Genetic Testing Registry: Leber congenital amaurosis 12 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. 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 PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. RPE65 gene 
    ... to 11-cis retinol. Other enzymes then produce 11-cis retinal, so that the visual cycle can begin again and capture light. Many variants (also called mutations) in the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  4. GUCY2D gene 
    ... the GUCY2D gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ... cases of this condition.The variants that cause Leber congenital amaurosis occur in both copies of the GUCY2D gene ...
    https://medlineplus.gov/genetics/gene/gucy2d - 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. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  7. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  8. 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
  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