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Results 1 - 10 of 12 for Leber congenital amaurosis 7
  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)  
    Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about the signs and symptoms of the retinal condition retinitis pigmentosa, as well as ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  6. Choroideremia (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs and symptoms of the retinal condition choroideremia, as well as how to live ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  7. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well ...
    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. 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
  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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