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Results 1 - 10 of 11 for Achromatopsia 4
  1. GNAT2 gene 
    The GNAT2 gene provides instructions for making one part (called the cone-specific alpha subunit) of a protein called transducin. This protein is found in ...
    https://medlineplus.gov/genetics/gene/gnat2 - Genetics
  2. Achromatopsia 
    ... Genetic Testing Registry: Achromatopsia 3 Genetic Testing Registry: Achromatopsia 4 Genetic Testing Registry: Achromatopsia 5 Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/achromatopsia - Genetics
  3. OPN1SW gene 
    ... sensitive cone pigment gene associated with a tritan color vision defect. Vis Neurosci. 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169. Citation on ...
    https://medlineplus.gov/genetics/gene/opn1sw - Genetics
  4. PDE6C gene 
    ... properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
  5. CNGB3 gene 
    ... Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  6. CNGA3 gene 
    ... Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha. ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  7. Achromatopsia (American Association for Pediatric Ophthalmology and Strabismus)  
    Color Blindness/Specifics ... Color Blindness ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, ...
    https://www.aapos.org/glossary/achromatopsia - External Health Links
  8. PDE6H gene 
    ... has been found to cause the vision disorder achromatopsia. It is a very rare cause of a form of the disorder called incomplete achromatopsia. This condition is characterized by limited color vision ...
    https://medlineplus.gov/genetics/gene/pde6h - Genetics
  9. Farsightedness 
    ... with farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics
  10. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
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