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    Color Blindness

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    Jorge Plano
    Color blindness, or color vision deficiency, results from partial or complete loss of function of one or more of the three cone cell types (red, green, blue) in the retina. The most common forms are dichromacy, where one cone type is absent causing two-dimensional color vision, and monochromacy or total color blindness where two or more cone types are absent resulting in grayscale vision. Achromatopsia, or total color blindness, is a rare condition typically caused by mutations in the CNGB3 gene which is essential for light responses in cone photoreceptors.

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    Color Blindness

    Uploaded by

    Jorge Plano
    92 views9 pages
    Color blindness, or color vision deficiency, results from partial or complete loss of function of one or more of the three cone cell types (red, green, blue) in the retina. The most common forms are dichromacy, where one cone type is absent causing two-dimensional color vision, and monochromacy or total color blindness where two or more cone types are absent resulting in grayscale vision. Achromatopsia, or total color blindness, is a rare condition typically caused by mutations in the CNGB3 gene which is essential for light responses in cone photoreceptors.

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    Color blindness, or color vision deficiency, results from partial or complete loss of function of one or more of the three cone cell types (red, green, blue) in the retina. The most common forms are dichromacy, where one cone type is absent causing two-dimensional color vision, and monochromacy or total color blindness where two or more cone types are absent resulting in grayscale vision. Achromatopsia, or total color blindness, is a rare condition typically caused by mutations in the CNGB3 gene which is essential for light responses in cone photoreceptors.

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    © All Rights Reserved
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    Download as ppt, pdf, or txt
    92 views9 pages

    Color Blindness

    Uploaded by

    Jorge Plano
    Color blindness, or color vision deficiency, results from partial or complete loss of function of one or more of the three cone cell types (red, green, blue) in the retina. The most common forms are dichromacy, where one cone type is absent causing two-dimensional color vision, and monochromacy or total color blindness where two or more cone types are absent resulting in grayscale vision. Achromatopsia, or total color blindness, is a rare condition typically caused by mutations in the CNGB3 gene which is essential for light responses in cone photoreceptors.

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    © All Rights Reserved
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    Download as ppt, pdf, or txt
    of 9

    Color Blindness

    By Jessie Wright

    The normal human retina contains two kinds of light


    sensitive cells: the rod cells (active only in low light) and
    the cone cells (active in normal daylight and responsible
    for color perception).
    Normally, there are three kinds of
    cones (each one sensitive to a
    specific range of wavelengths):
    "red" cones (64%)
    "green" cones (32%)
    "blue" cones (2%)

    The different kinds of inherited color blindness result


    from partial or complete loss of function of one or more
    of the different cone systems.

    Different Types of Color


    Blindness

    Monochromacy: occurs when two or all three of the cone


    pigments are missing and color and lightness vision is
    reduced to one dimension.
    Total color blindness
    Dichromacy: occurs when only one of the cone pigments
    is missing and color is reduced to two dimensions.
    Partial color blindness
    red-green
    blue-yellow

    Total Color Blindness


    Also known as rod monochromacy, complete achromatopsia,
    and
    typical monochromacy.
    A rare, non-progressive inability to distinguish any colors as a
    result of absent or nonfunctioning retinal cones.
    See everything as white, black, or some shade of gray
    Typically caused by a missense mutation (a switched amino
    acid)
    in the CNGB3 gene.

    CYCLIC NUCLEOTIDE-GATED
    CHANNEL, BETA-3 (CNGB3)
    Classic achromatopsia results from a complete loss of
    CNGB3 function.
    CNGB3 encodes for the beta subunit of the cone cyclic
    nucleotide-gated cation channel, found photoreceptor
    plasma membranes.
    Upon activation by cGMP, it leads to an opening of cation
    channels which thereby cause a depolarization of rod
    photoreceptors. This gene is essential for the generation
    of light-evoked electrical responses in cones.
    CNGB3 is not required for vital processes outside the
    visual system.

    CNGB3 Cont.
    The human CNGB3 gene consists of 18 exons
    distributed over 200 kb of genomic sequence.
    Gene type: protein coding
    Domain: similar to ion transport protein

    Cytogenetic locus: chromosome: 8; Location: 8q21-q22

    Amino acid sequence


    Length: 809 aa
    "MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQE
    ENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSGDLTTNPDPQNAAEPTGTVPEQK
    EMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
    SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLY
    LLWLLLVTLAYNWNCWFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQ
    FVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFNPMFRANRMLKYTSF
    FEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGN
    EYLRCYYWAVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATA
    NQNYFRACMDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQRMLDESDLLKTLPTTVQL
    ALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKEMYIIKH
    GEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTL
    QEILVHYPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGG
    TGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDK
    DKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEV
    LTIEVKEKAKQ"

    Mutation
    The genetic basis
    for achromatopsia
    is found on
    chromosome 8
    (location 8q21q22) where there is
    a recessive point
    mutation in CNGB3
    that changes
    serine at residue
    435 to
    phenylalanine in a
    highly conserved
    site in the S6
    membranespanning domain.

    Bibliography

    Bookshelf:
    Samir S Deeb, PhD, Arno G Motulsky, MD, Red-Green Color Vision Defects,
    GeneReviews, September 19, 2005.
    Berg, Jeremy M. 32.3.5. Rearrangements in the Genes for the Green and Red
    Pigments Lead to Color Blindness, Biochemistry 5th edition, W.H. Freeman and
    Company, 2002.

    OMIM:
    COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
    OMIM ID: 303800

    PubMed:
    Harrison, R.; Hoefnagel, D.; Hayward, J. N. Congenital total color blindness.
    Arch. Ophthal. 64: 685-692, 1960. PubMed ID: 13711836
    Botstein, D. The molecular biology of color vision. (Editorial) Science 232: 142143, 1986. PubMed ID: 2937146
    Reyniers, E.; Van Thienen, M.-N.; Meire, F.; De Boulle, K.; Devries, K.; Kestelijn, P.;
    Willems, P. J. Gene conversion between red and defective green opsin gene in
    blue cone monochromacy. Genomics 29: 323-328, 1995. PubMed ID: 8666378
    Winderickx, J.; Sanocki, E.; Lindsey, D. T.; Teller, D. Y.; Motulsky, A. G.; Deeb, S. S. :
    Defective colour vision associated with a missense mutation in the human green
    visual pigment gene. Nature Genet. 1: 251-256, 1992.
    PubMed ID: 1302020

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