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25 results
  1. 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 ...
  2. OPN1LW gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/opn1lw
    ... 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 ...
  3. OPN1MW gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/opn1mw
    ... 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 ...
  4. OPN1SW gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/opn1sw
    ... form of color vision deficiency called blue-yellow color vision defects or tritan defects. These defects cause problems with ... is called tritanopia. A less severe blue-yellow color vision defect called tritanomaly occurs when S cones function abnormally. More ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... other_name >Color blindness</other_name><other_name >Color vision defects</other_name><other_name >Defective color vision</other_ ... chromosome/y</url></topic></topics></topic></genetics_home_reference_topic_list>
  6. 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 ...
  7. 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 ...
  8. 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, ...
  9. 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, ...
  10. X-Linked Congenital Stationary Night Blindness - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1245
    ... scotopic functions. Fundus hypopigmentation Myopia is progressive. Protan color vision defect X-linked cone-rod dystrophy (CORDX3) 2 (OMIM ... that does not conform to current naming conventions References Literature Cited Allen LE, Zito I, Bradshaw K, ...
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