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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.
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. [5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin .
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.
Hans Eiberg (born 8 April 1945) is a Danish geneticist, known for his discovery of the genetic mutation causing blue eyes.. Hans Eiberg graduated as a M.Sc. in 1970. He has worked with genetics at the Institute for Medical Biochemistry and Genetics of Copenhagen University since 1971, and became an associate professor at the institute in 1975.
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.
Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity. [2] Color vision also naturally degrades in old ...
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.
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.