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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.
[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 ...
OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. In human, the OCA2 gene is located on the long (q) arm of chromosome 15 between positions 12 and 13.1. The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15.
Human Eye. Cyanopsia is a rare visual phenomenon characterized by a blue tint to vision. Most commonly associated with cataract surgery and certain medications, such as sildenafil, cyanopsia is typically a temporary side effect rather than a standalone disease.
PEX has been known to cause a weakening of structures within the eye which help hold the eye's lens in place, called lens zonules. [2] The literature recognizes pseudoexfoliation syndrome as a risk factor in cataract surgery. A review based on 999 eyes with pseudoexfoliation reported 156 intra- or postoperative incidents.
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.
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders.It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.
This is a list of notable people who have been documented as having heterochromia iridis, a condition when the irises have different colours. People who are frequently mistakenly thought to have heterochromia are not included, but may be listed in the Notes section.