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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.
Blue eye disease is caused by the porcine rubulavirus, which first emerged in 1980 throughout parts of Mexico, including La Piedad, Michoacan, Jalisco, and Guanajuato. The virus is transmitted directly and indirectly by fomites and birds and can be found throughout the body, including neurons and most soft tissues.
Its prevalence in different human populations varies; for example, it is prevalent in Scandinavia. [2] The buildup of protein clumps can block normal drainage of the eye fluid called the aqueous humor and can cause, in turn, a buildup of pressure leading to glaucoma and loss of vision [3] (pseudoexfoliation glaucoma, exfoliation glaucoma). As ...
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.
[1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. [5]: 1512 Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems [10] and problems with the teeth (dentinogenesis imperfecta). [5]
This may lead to intense eye pain, blurred vision, and nausea. Closed-angle glaucoma is an emergency requiring immediate attention. [1] If treated early, slowing or stopping the progression of glaucoma is possible. Regular eye examinations, especially if the person is over 40 or has a family history of glaucoma, are essential for early ...
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.