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Heterochromia iridum
Specialty	Ophthalmology

In anatomy, heterochromia refers to 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, disease, or injury.

Heterochromia of the eye (heterochromia iridis or heterochromia iridum; the common wrong form "heterochromia iridium" is not correct Latin) is of two kinds. In complete heterochromia, one iris is a different color from the other. In partial heterochromia or sectoral heterochromia, part of one iris is a different color from its remainder.

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

Classification

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. Most cases of heterochromia are hereditary, caused by a disease or syndrome, or due to an injury. Sometimes one eye may change color following certain diseases or injuries.

Congenital heterochromia

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

Abnormal iris darker

• Lisch nodules – iris hamartomas seen in neurofibromatosis.
• Ocular melanosis – a condition characterized by increased pigmentation of the uveal tract, episclera, and anterior chamber angle.
• Oculodermal melanocytosis (nevus of Ota)
• Pigment dispersion syndrome – a condition characterized by loss of pigmentation from the posterior iris surface which is disseminated intraocularly and deposited on various intraocular structures, including the anterior surface of the iris.
• Sturge-Weber syndrome – a syndrome characterized by a port-wine stain nevus in the distribution of the trigeminal nerve, ipsilateral leptomeningeal angiomas (leptomaningiomas) with intracranial calcification and neurologic signs, and angioma of the choroid, often with secondary glaucoma.

Abnormal iris lighter

• Simple heterochromia – a rare condition characterized by the absence of other ocular or systemic problems. The lighter eye is typically regarded as the affected eye as it usually shows iris hypoplasia. It may affect an iris completely or only partially.
• Congenital Horner's syndrome – sometimes inherited, although usually acquired
• Waardenburg's syndrome – a syndrome in which heterochromia is expressed as a bilateral iris hypochromia in some cases. A Japanese review of 11 albino children with the disorder found that all had sectoral/partial heterochromia.
• Piebaldism – similar to Waardenburg's syndrome, a rare disorder of melanocyte development characterized by a white forelock and multiple symmetrical hypopigmented or depigmented macules.
• Hirschsprung's disease – a bowel disorder associated with heterochromia in the form of a sector hypochromia. The affected sectors have been shown to have reduced numbers of melanocytes and decreased stromal pigmentation.
• Incontinentia pigmenti
• Parry-Romberg syndrome

Acquired heterochromia

Heterochromia that is acquired is usually due to injury, inflammation, the use of certain eyedrops, or tumors.

Abnormal iris darker

• Deposition of material
  • Siderosis – iron deposition within ocular tissues due to a penetrating injury and a retained iron-containing, intraocular foreign body.
  • Hemosiderosis – long standing hyphema (blood in the anterior chamber) following blunt trauma to the eye may lead to iron deposition from blood products
• Use of certain eyedrops – prostaglandin analogues (latanoprost, isopropyl unoprostone, travoprost, and bimatoprost) are used topically to lower intraocular pressure in glaucoma patients. A concentric heterochromia has developed in some patients applying these drugs. The stroma around the iris sphincter muscle becomes darker than the peripheral stroma. A stimulation of melanin synthesis within iris melanocytes has been postulated.
• Neoplasm – Nevi and melanomatous tumors.
• Iridocorneal endothelium syndrome
• Iris ectropion syndrome

Abnormal iris lighter

• Fuchs heterochromic iridocyclitis – a condition characterized by a low grade, asymptomatic uveitis in which the iris in the affected eye becomes hypochromic and has a washed-out, somewhat moth eaten appearance. The heterochromia can be very subtle, especially in patients with lighter colored irides. It is often most easily seen in daylight. The prevalence of heterochromia associated with Fuchs has been estimated in various studies with results suggesting that there is more difficulty recognizing iris color changes in dark-eyed individuals.
• Acquired Horner's syndrome – usually acquired, as in neuroblastoma, although sometimes inherited.
• Neoplasm – Melanomas can also be very lightly pigmented, and a lighter colored iris may be a rare manifestation of metastatic disease to the eye.

Heterochromia has also been observed in those with Duane syndrome.

• Chronic iritis
• Juvenile xanthogranuloma
• Leukemia and lymphoma

Central heterochromia

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.

Eye color is determined primarily by the concentration and distribution of melanin within the iris tissues. Though humans do not yet fully understand all the processes involved, scientists do know that (inherited) eye color is determined by multiple genes but can be altered by acquired characteristics and the environment.

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.

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.

Hazel eyes are not instances of central heterochromia. Many people get confused between green eyes with central heterochromia and hazel eyes when in fact green eyes with central heterochromia are defined as Forest Green eyes, Hazel eyes are when a complete layer of brown is over the green and/or amber underlayer and blends in making a light hazelnut honey brown, and in some instances you will be able to see the slightest bit of green and/or amber around the edges of the eye, this is what gives the illusion of hazel eyes changing in different atmospheres. That being said there is no clear definement of what exactly hazel eyes are, as there are different perceptions.

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."

Famous people with heterochromia

In other organisms

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. 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. 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 Alaskan Malamute.

Gallery

• Sectoral heterochromia: a blue iris with a brown section.
• A young adult exhibiting sectoral heterochromia in the form of an orange segment in her right, blue eye. The individual's mother exhibited a similar orange segment in her left eye, although her iris color was green.
• Heterochromia in a child.
• Central heterochromia (both violet-edged with amber centers, in concentric rings)
• A miniature poodle with sectoral heterochromia.
• Complete heterochromia in a cat: one eye blue, one yellow. The yellow eye has what looks like central heterochromia, as the outside of the eye is yellow, and the iris is green.
• Complete heterochromia in a dog: one eye blue, one eye brown.
• Sectoral hypochromia in a blue merle Border Collie.
• A cat with complete heterochromia.
• Central heterochromia displayed in violet eyes with amber ring around iris (occurs in both eyes, genetically inherited).
• Complete heterochromia with anisocoria. Complete heterochromia with anisocoria.

See also

• Albinism
• Albino and white squirrels
• Brushfield spots
• Chimera (genetics)
• Coloboma
• Eye Color
• Erythrism
• Leucism
• List of people with heterochromia
• List of systemic diseases with ocular manifestations
• Melanism
• Odd-eyed cat
• Piebaldism
• Vitiligo
• Xanthochromism
• List of cutaneous conditions

References

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4. "All About Eye Color" from Larry Bickford
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21. HeterochromiaCentral.com - What Is Central Heterochromia?
22. Seddon JM, Sahagian CR, Glynn RJ, Sperduto RD, Gragoudas ES (1990). "Evaluation of an iris color classification system". Invest Ophthalmol Vis Sci. 31 (8): 1592–8. PMID 2201662. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
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External links

• Windows of the Soul / Ron Padova
• Photograph of Radial Reddish Sunburst Pattern in Right Eye of Bluish Hazel Eyed Woman
• Heterochromia Central - Pictures and expert articles on a variety of heterochromia-related topics (and species).

• Disturbances of pigmentation
• Diseases of the eye and adnexa
• Medical signs
• Genodermatoses