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Results 1 - 9 of 9 for Achromatopsia 2
  1. CNGA3 gene 
    ... Tanaka JC. Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. Invest Ophthalmol Vis Sci. 2005 ... B; Achromatopsia Clinical Study Group. Mutations in CNGA3 impair trafficking ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  2. Achromatopsia 
    ... blindness Genetic Testing Registry: Achromatopsia Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. GNAT2 gene 
    ... Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  4. Color vision deficiency 
    ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception ...
    https://medlineplus.gov/genetics/condition/color-vision-deficiency - Genetics
  5. CNGB3 gene 
    ... Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. No ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  6. OPN1MW gene 
    ... of the OPN1LW gene.Less commonly, red-green color vision defects can ... depends entirely on the other two types of cones. The specific type of red- ...
    https://medlineplus.gov/genetics/gene/opn1mw - Genetics
  7. OPN1LW gene 
    ... cones, color vision depends entirely on the other two types of cones. The ... defect called protanomaly occurs when a partially functional hybrid ...
    https://medlineplus.gov/genetics/gene/opn1lw - Genetics
  8. OPN1SW gene 
    ... cones, color vision depends entirely on the other two types of cones. The ... defect called tritanomaly occurs when S cones function abnormally. ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  9. 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