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Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity. [2] Color vision also naturally degrades in old ...
When it comes to eye color, the melanin controlled by the OCA2 gene is diluted and thus we all have blue eyes. For those with that blue-eye gene mutation they eyes stay blue.
As humans typically exhibit three classes of cones, cone monochromats can hypothetically derive their photopic vision from any one of them, leading to three categories of cone monochromats: [4] Blue cone monochromacy (BCM), also known as S-cone monochromacy, is an X-linked cone disease. [ 5 ]
Colors of confusion include blue/purple and green/yellow. [2] Deuteranopia is a severe form of red-green color blindness, in which the M-cone is absent. It is sex-linked and affects about 1% of males. Color vision is very similar to protanopia. [2] Tritanopia is a severe form of blue-yellow color blindness, in which the S-cone is absent. It is ...
The retina of the human eye contains photoreceptive cells called cones that allow color vision. A normal trichromat possesses three different types of cones to distinguish different colors within the visible spectrum. The three types of cones are designated L, M, and S cones, each containing an opsin sensitive to a different portion of the ...
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