DISEASES

Disease-gene associations mined from literature

Human genes for blue cone monochromacy

Blue cone monochromacy [DOID:0050679]

Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under lighting conditions when color vision is not normally impaired. "Color blind" is a term of art; there is no actual blindness but there is a fault in the development of one or more sets of retinal cones that perceive color in light and transmit that information to the optic nerve. Color blindness is a sex-linked condition. The genes that produce photopigments are carried on the X chromosome; if some of these genes are missing or damaged, color blindness will be expressed in males with a higher probability than in females because males only have one X chromosome (in females, a good gene on only one of the two X chromosomes is enough to yield the needed photopigments).

Synonyms:  blue cone monochromacy,  DOID:0050679,  blue cone monochromatism