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  1. Achromatopsia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1418
    ... Oligo-cone trichromacy Rosenberg et al [2004] Differential Diagnosis Achromatopsia is readily recognized by its characteristic features (see ... Inherited Retinal Dystrophies to Consider in the Differential Diagnosis of Achromatopsia View in own window Disorder Gene(s) MOI ...
  2. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... Retinal Disorders to be Considered in the Differential Diagnosis of LCA/EOSRD View in own window Disorder Gene(s) MOI Distinguishing Clinical Features / Assessments Nonsyndromic Achromatopsia CNGB3 CNGA3 GNAT2 PDE6C ATF6 PDE6H AR In ...
  3. Achromatopsia 
    https://medlineplus.gov/genetics/condition/achromatopsia
    ... but they typically do not show signs and symptoms of the condition. Achromatism Rod monochromatism Total color blindness Genetic Testing Registry: Achromatopsia Genetic Testing Registry: Achromatopsia 2 Genetic Testing Registry: ...
  4. WFS1 Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK4144
    ... Atrophy Associated with Hearing Impairment in the Differential Diagnosis of WFS1 Spectrum ... visual field defects; color vision defects. Visual impairment is usually moderate (6/10-2/ ...
  5. Color vision deficiency 
    https://medlineplus.gov/genetics/condition/color-vision-deficiency
    ... that affect the perception of color. Red-green color vision defects are the most common form of color vision ... shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause ...
  6. Farsightedness 
    https://medlineplus.gov/genetics/condition/farsightedness
    ... with farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, ...
  7. 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/ ...
  8. 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 ...
  9. 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 ...
  10. 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 ...
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