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