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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.
The Ishihara color test is the test most often used to detect red–green deficiencies and most often recognized by the public. [1] Some tests are clinical in nature, designed to be fast, simple, and effective at identifying broad categories of color blindness. Others focus on precision and are generally available only in academic settings. [56]
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 ]
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye's iris [1] [2] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris.
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 ...
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Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteristic of Bardet–Biedl Syndrome .