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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.
Mutations in a single copy of SNAI2 have also been found to cause patches of hair depigmentation without any other symptoms. [25] Type 2E is caused by an autosomal dominant mutation in the gene SOX10. [4] Rarely, a mutation in a gene other than those currently known may be responsible for a Waardenburg syndrome with features of type 2.
A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. [10] [11] [12]
For her entire life, college student Olivia Cook had only a small degree of central vision. It was as if she was watching the world through a straw hole, and in dimly lit places, she could not ...
[56] [57] However, more recent ancient DNA research has identified human remains much older than the Neolithic period which possess the OCA2 mutation for blue eyes. It is now believed that the OCA2 allele responsible for blue eyes dates back to the migration of modern humans out of Africa roughly 50,000 years ago, and entered Europe from ...
BCM results from mutations in a single red or red–green hybrid opsin gene, mutations in both the red and the green opsin genes or deletions within the adjacent LCR (locus control region) on the X chromosome. [3] Green cone monochromacy (GCM), also known as M-cone monochromacy, is a condition where the blue and red cones are absent in the ...
These include issues around the governance of the therapy, whether treatment should be available only to those who can afford it, and whether the availability of treatment creates a stigma for those with color blindness. Given the large number of people with color blindness, there is also the question of whether color blindness is a disorder. [16]
This genotype is present in almost all people with blue eyes and is hypothesised as being the founder mutation of blue eyes in humans. [13] [14] [15] The rs916977 SNP is most common in Europe; particularly in the north and east, where it nears fixation.