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Achromatopsia 6
- ... Genetic Testing Registry: Achromatopsia 5 Genetic Testing Registry: Achromatopsia 6 Achromatopsia 2 Achromatopsia 3 Blue cone monochromatism National ...
- ... cones to produce normal color vision. At least six mutations in the OPN1SW gene have been found to cause a relatively uncommon form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with ...
- ... basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov ...
- ... the condition from an affected parent. Color blindness Color vision defects Defective ... genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244. Citation on PubMed Deeb ...
- ... for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 ... Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. ...
- ... 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 ...
- ... 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 ...
- Nystagmus (American Association for Pediatric Ophthalmology and Strabismus)Eye Movement Disorders/Start Here ... Eye Movement Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
- ... following congenital (present from birth) color vision problems: Achromatopsia -- complete color blindness , seeing only shades of gray ...
- 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 ...