Heterochromia iridum

Not to be confused with Heterochromatin or Dichromatic (disambiguation).
Heterochromia

Complete heterochromia in human eyes: one

brown and one green/hazel
Classification and external resources
Specialty ophthalmology
ICD-10 Q13.2, H20.8, L67.1
ICD-9-CM 364.53
OMIM 142500
DiseasesDB 31289
MedlinePlus 003319
MeSH C538115

In anatomy, heterochromia (ancient Greek: ἕτερος, héteros, different + χρώμα, chróma, color[1]) is a difference in coloration, usually of the iris but also of hair or skin. Heterochromia is a result of the relative excess or lack of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury.[2]

Heterochromia of the eye (heterochromia iridis or heterochromia iridum) is of three kinds. In complete heterochromia, one iris is a different color from the other. In sectoral heterochromia, part of one iris is a different color from its remainder and finally in "central heterochromia" there are spikes of different colours radiating from the pupil.

Though multiple causes have been posited, the scientific consensus is that a lack of genetic diversity is the primary reason behind heterochromia. This is due to a mutation of the genes that determine melanin distribution at the 8-HTP pathway, which usually only become corrupted due to chromosomal homogeneity.[3]

Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin.[4][5] The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic).[3] In humans, usually, an excess of melanin indicates hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia.

Classification

Congenital heterochromia: inherited in autosomal dominant fashion (from men or women)

Heterochromia is classified primarily by onset: as either genetic or acquired. Although a distinction is frequently made between heterochromia that affects an eye completely or only partially (sectoral heterochromia), it is often classified as either genetic (due to mosaicism or congenital) or acquired, with mention as to whether the affected iris or portion of the iris is darker or lighter.[6] Most cases of heterochromia are hereditary, caused by certain diseases and syndromes. Sometimes one eye may change color following disease or injury.[7]

Congenital heterochromia

Heterochromia that is congenital is usually inherited as an autosomal dominant trait.

Sectoral heterochromia

In sectoral heterochromia, the iris contains two completely different colors in the same area. Sectoral heterochromia looks like an irregular spot that is a different color than the eye color and does not form a complete ring around the pupil like central heterochromia.

Heterochromia is most prevalent in cats and dogs. Sectoral heterochromia is rare in humans; only about 1% of the population has it.

Abnormal iris darker

Abnormal iris lighter

Individual with Waardenburg Syndrome Type II exhibiting complete heterochromia iridum

Acquired heterochromia

A Siberian husky sled dog

Heterochromia that is acquired is usually due to injury, inflammation, the use of certain eyedrops that damages the iris,[13] or tumors.

Abnormal iris darker

Abnormal iris lighter

Heterochromia has also been observed in those with Duane syndrome.[19][20]

Central heterochromia

Example of central heterochromia showing a gold to blue iris

Central heterochromia is an eye condition where there are two colors in the same iris; the central (pupillary) zone of the iris is a different color than the mid-peripheral (ciliary) zone, with the true iris color being the outer color. [21]

Eye color is determined primarily by the concentration and distribution of melanin within the iris tissues. Although the processes determining eye color are not fully understood, it is known that inherited eye color is determined by multiple genes. Environmental or acquired factors can alter these inherited traits.[4]

The human iris can be seen in a number of various colors. There are three true colors in human eyes that determine the outward appearance: brown, yellow, and grey. The amount of each color an individual has determines the appearance of the eye color.[22]

Eyes displaying central heterochromia are often referred to as "cat eyes" because of their multi-colored iris. Central heterochromia appears to be prevalent in irises containing low amounts of melanin.[23]

A famous case of a person with central heterochromia was Baroness Rozsika Edle von Wertheimstein, whose daughter wrote: "She was a very beautiful woman... She had dark, dark brown eyes, but each eye had a purple ring to it, about a quarter of an inch of purple around these dark brown eyes."[24]

In other organisms

See also: Odd-eyed cat

Although infrequently seen in humans, complete heterochromia is more frequently observed in other species, where it almost always involves one blue eye. 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, Turkish Angora, Khao Manee and (rarely) Japanese Bobtail. These so-called odd-eyed cats are white, or mostly white, with one normal eye (copper, orange, yellow, green), and one blue eye. Among dogs, complete heterochromia is seen often in the Siberian Husky and few other breeds, usually Australian Shepherd and Catahoula Leopard Dog and rarely in Shih Tzu. Horses with complete heterochromia have one brown and one white, gray, or blue eye—complete heterochromia is more common in horses with pinto coloring. Complete heterochromia occurs also in cattle and even water buffalo.[25] It can also be seen in ferrets with Waardenburg Syndrome, although it can be very hard to tell at times as the eye color is often a midnight blue.

Sectoral heterochromia, usually sectoral hypochromia, is often seen in dogs, specifically in breeds with merle coats. These breeds include the Australian Shepherd, Border Collie, Collie, Shetland Sheepdog, Welsh Corgi, Pyrenean Shepherd, Mudi, Beauceron, Catahoula Cur, Dunker, Great Dane, Dachshund and Chihuahua. It also occurs in certain breeds that do not carry the merle trait, such as the Siberian Husky and rarely, Shih Tzu. There are example of cat breeds that have the condition such as Van cat.

See also

References

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