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  1. Achromatopsia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1418
    ... Search term GeneReviews Advanced Search Help < Prev Next > Achromatopsia Susanne Kohl , MSc, PhD, Herbert Jägle , MD, Dhabil, ... Thomas et al 2012 ]. Most individuals have complete achromatopsia , in which the symptoms can be explained by ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Achromatopsia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. Color Blindness 
    https://medlineplus.gov/colorblindness.html
    ... rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most ...
  4. xmlmplus_topics_2025-07-19.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-07-19.xml
    ... rose in full bloom. If you have a color vision defect, you may see these colors differently than most ... p> <p>There are three main kinds of color vision defects. Red-green color vision defects are the most ...
  5. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... cone monochromacy (OMIM 303700 ) XL Similar features to achromatopsia but less severe; reduced visual acuity; nystagmus; myopia; color vision defects; increased sensitivity to light (photophobia) RS1 X-linked ...
  6. FRMD7-Related Infantile Nystagmus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3822
    ... phase (lymphoproliferative infiltration of bone marrow & reticuloendothelial system) Achromatopsia AFT6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR Infantile nystagmus (pendular or jerk nystagmus in achromatopsia) In achromatopsia: Reduced or complete loss of color ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/achromatopsia</url><title >Achromatopsia</title><other_names ><other_name >Achromatism</other_name>< ...
  8. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... Gene(s) MOI Distinguishing Clinical Features / Assessments Nonsyndromic Achromatopsia CNGB3 CNGA3 GNAT2 PDE6C ATF6 PDE6H AR In achromatopsia: Absent / markedly reduced cone responses w/normal rod ...
  9. Color blindness 
    https://medlineplus.gov/ency/article/001002.htm
    ... The most severe form of color blindness is achromatopsia. This is a rare condition in which a ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... et al [2010] , Zlotogora et al [2018] CNGA3 Achromatopsia AR c.1669G>A p.Gly557Arg <100% 4 ...
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