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15 results
  1. Color Blindness | MedlinePlus 
    https://medlineplus.gov/colorblindness.html
    ... Institute) Also in Spanish Clinical Trials ClinicalTrials.gov: Color Vision Defects (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  2. Achromatopsia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1418
    ... Allelic Disorders (Not in the Differential Diagnosis of Achromatopsia) View in own window Gene Disorder Reference CNGB3 Macular degeneration Nishiguchi et al [2005] GNAT2 ...
  3. xmlmplus_topics_2025-06-07.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-06-07.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 ...
  4. 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 ...
  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. 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>< ...
  7. 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 ...
  8. Choroideremia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1337
    ... and distinct chorioretinal atrophy [ Renner et al 2006 ]. Color vision defects can be found using the desaturated panel D15 ... posted live 2 December 2002 (im) Original submission References Published Guidelines / Consensus Statements American Academy of Ophthalmology ...
  9. Deafness-Dystonia-Optic Neuronopathy Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1216
    ... late teens as photophobia, reduced visual acuity, acquired color vision defect, and central scotomas. Ophthalmologic examination in children reveals ... posted live 23 August 2002 (lt) Original submission References Literature Cited Arai T, Zhao M, Kanegane H, ...
  10. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... mellitus is less frequent (5%-10%) in BBS. Achromatopsia (ACH) ATF6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR ... atypical Alström syndrome who have ALMS1 missense variants. References Literature Cited Akdeniz N, Bilgili SG, Aktar S, ...
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