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Results 1 - 10 of 13 for Achromatopsia 7
  1. CNGA3 gene 
    ... Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004 Jan 7;24(1):138-47. doi: 10.1523/JNEUROSCI. ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  2. Achromatopsia 
    ... nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. Citation on PubMed or Free article on PubMed ... utility gene card for: Achromatopsia - update 2013. Eur J Hum Genet. 2013 Nov; ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. PDE6H gene 
    ... nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16. Citation on PubMed or Free article on PubMed ... H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  4. OPN1SW gene 
    ... sensitive cone pigment gene associated with a tritan color vision defect. Vis ... color vision. Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010. ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  5. Color vision deficiency 
    ... that affect the perception of color. Red-green color vision defects are the most common form of color vision ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause ...
    https://medlineplus.gov/genetics/condition/color-vision-deficiency - Genetics
  6. PDE6C gene 
    ... have been found to cause the vision disorder achromatopsia. These mutations underlie a relatively small percentage of cases of complete achromatopsia, a form of the disorder characterized by a ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  7. OPN1LW gene 
    ... changes involving the OPN1LW gene cause red-green color vision defects, a form of color vision deficiency that makes ... of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and ...
    https://medlineplus.gov/genetics/gene/opn1lw - Genetics
  8. OPN1MW gene 
    ... changes involving the OPN1MW gene cause red-green color vision defects, a form of color vision deficiency that makes ... of red, yellow, and green. Most red-green color vision defects result from structural rearrangements involving the OPN1LW and ...
    https://medlineplus.gov/genetics/gene/opn1mw - Genetics
  9. 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
  10. 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
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