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Results 1 - 10 of 14 for Leber congenital amaurosis 4
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 3 Genetic Testing Registry: Leber congenital amaurosis 4 Genetic Testing Registry: Leber congenital amaurosis 5 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. 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
  3. GUCY2D gene 
    ... effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Citation ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  4. 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
  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. 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. ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  7. CEP290 gene 
    ... Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  8. CRB1 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. ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  9. Senior-Løken syndrome 
    ... called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in ... fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  10. Getting Professional Eye Care (Prevent Blindness America)  
    Health Screening/Specifics ... Health Screening ... Eye Diseases/Diagnosis and Tests ... Eye Diseases ... Eye Care/Diagnosis and Tests ... Eye Care ... Prevent Blindness America ... What ...
    https://preventblindness.org/getting-professional-eye-care - External Health Links
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