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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.
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.
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 ]
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]
Ojos Azules (Spanish: [ˈoxos aθˈules], 'Blue Eyes') was a breed of shorthaired [1] [2] domestic cat with unusual blue or odd eyes [1] caused by a dominant blue eye (DBE) genetic mutation. The breed came in all coat colors; however, only particolors ( bicolors and tricolors ), colorpoints , and intermediate colors with a characteristic white ...
Although infrequently seen in humans, complete heterochromia is more frequently observed in species of domesticated mammals. The blue eye occurs within a white spot, where melanin is absent from the skin and hair (see Leucism). These species include the cat, particularly breeds such as Turkish Van, Khao Manee and (rarely) Japanese Bobtail.
Coloboma in the right eye of a 10-month-old child. There are two categories in which the signs of congenital blindness can be classified. The first category pertains to consistently poor vision, such as not displaying preferential looking when presented with high-contrast visual stimuli. [6]