Heterochromia
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Heterochromia
Heterochromia
June odd-eyed-cat cropped.jpg
Domestic cat with complete heterochromia
SpecialtyOphthalmology Edit this on Wikidata
Symptomsdifferent or partially different eye color
Durationlife-long
Treatmentiris implant surgery (controversial for cosmetic purposes)

Heterochromia is a difference in coloration, usually of the iris but can also be of hair[1] or skin. Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury.[2] It occurs in humans and certain breeds of domesticated animals.

Heterochromia of the eye is called heterochromia iridum or heterochromia iridis. It can be complete or sectoral. 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. In central heterochromia, there is a ring around the pupil or possibly spikes of different colors radiating from the pupil.

Heterochromia of the eye was described by the Ancient Greek philosopher Aristotle, who termed it heteroglaucos. The historian Plutarch describes Alexander the Great as having this condition.[3]

Though multiple causes have been posited, the scientific consensus is that a lack of genetic diversity is the primary reason behind heterochromia, at least in domestic animals. 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.[4] Though common in some breeds of cats, dogs, cattle and horses, due to inbreeding, heterochromia is uncommon in humans, affecting fewer than 200,000 people in the United States, and is not associated with lack of genetic diversity.[5][6]

Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin.[7][8] The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic).[4] In humans, an increase of melanin production in the eyes indicates hyperplasia of the iris tissues, whereas a lack of melanin indicates hypoplasia. The term is from Ancient Greek: , héteros meaning different and , chróma meaning color.[9]

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.[10] Most cases of heterochromia are hereditary, and are entirely benign and unconnected to any pathology, however, some are associated with certain diseases and syndromes. Sometimes one eye may change color following disease or injury.[11][3][12]

Sectoral or partial heterochromia

sectoral heterochromia

In sectoral heterochromia, sometimes referred to as partial heterochromia, areas of the same iris contain two completely different colors.[13] It is unknown how rare sectoral heterochromia is in humans.

Abnormal iris darker

Abnormal iris lighter

Individual with Waardenburg Syndrome Type II exhibiting complete heterochromia iridum
  • 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[16] - sometimes inherited, although usually acquired
  • Waardenburg syndrome[16] - a syndrome in which heterochromia is expressed as a bilateral iris hypochromia in some cases. A Japanese review of 11 children with albinism found that the condition was present. All had sectoral/partial heterochromia.[17]
  • 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.[18]
  • Incontinentia pigmenti[4]
  • Parry-Romberg syndrome[4]

Acquired heterochromia

An Alaskan husky sled dog with heterochromia. Huskies are a breed known to have a high incidence of heterochromia

Acquired heterochromia is usually due to injury, inflammation, the use of certain eyedrops that damage the iris,[19] 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
  • 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.[medical ]
  • Neoplasm - Nevi and melanomatous tumors.
  • Iridocorneal endothelium syndrome[4]
  • Iris ectropion syndrome[4]

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[20][21][22] with results suggesting that there is more difficulty recognizing iris color changes in dark-eyed individuals.[22][23]
  • Acquired Horner's syndrome - usually acquired, as in neuroblastoma,[24] 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.
  • Parry-Romberg syndrome - due to tissue loss.[25]

Heterochromia has also been observed in those with Duane syndrome.[26][27]

Central heterochromia

Eye with central heterochromia (green and brown)

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. 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.[7]

The color of the human iris is very variable. However, there are only two pigments present, eumelanin and pheomelanin. The overall concentration of these pigments, the ratio between them, variation in the distribution of pigment in the layers of the stroma of the iris and the effects of light scattering all play a part in determining eye color.[28]

Central heterochromia appears to be prevalent in irises containing low amounts of melanin.[29]

In other animals

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.[30] 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.[]

Gallery

See also

References

  1. ^ Kumar P (2017). "Focal Scalp Hair Heterochromia in an Infant". Sultan Qaboos University Medical Journal. 17: e116-118. doi:10.18295/squmj.2016.17.01.022. PMC 5380409. PMID 28417041.
  2. ^ Imesch PD, Wallow IH, Albert DM (February 1997). "The color of the human eye: a review of morphologic correlates and of some conditions that affect iridial pigmentation throughout life". Survey of Ophthalmology. 41 (Suppl 2): S117-23. doi:10.1016/S0039-6257(97)80018-5. PMID 9154287.
  3. ^ a b Gladstone RM (1969). "Development and Significance of Heterochromia of the Iris". Arch Neurol. 21 (2): 184-192. doi:10.1001/archneur.1969.00480140084008.
  4. ^ a b c d e f g h i j Loewenstein, John; Scott Lee (2004). Ophthalmology: Just the Facts. New York: McGraw-Hill. ISBN 0-07-140332-9.
  5. ^ Konovalova EN, Gladyr EA, Kostiunina OV, Zinovieva LK (2017). "Congenital Defects of Beef Cattle and General Principles of their Prevention". Journal of Agriculture and Environment. doi:10.23649/jae.2017.2.3.1.CS1 maint: multiple names: authors list (link)
  6. ^ Ur Rehman H (2008). "Heterochromia". CMAJ. 179 (5): 447-448. doi:10.1503/cmaj.070497.
  7. ^ a b Wielgus AR, Sarna T (December 2005). "Melanin in human irides of different color and age of donors". Pigment Cell Research. 18 (6): 454-64. doi:10.1111/j.1600-0749.2005.00268.x. PMID 16280011.
  8. ^ Prota G, Hu DN, Vincensi MR, McCormick SA, Napolitano A (September 1998). "Characterization of melanins in human irides and cultured uveal melanocytes from eyes of different colors". Experimental Eye Research. 67 (3): 293-9. doi:10.1006/exer.1998.0518. PMID 9778410.
  9. ^ "heterochromia iridis - definition of heterochromia iridis in the Medical dictionary - by the Free Online Medical Dictionary, Thesaurus and Encyclopedia". Medical-dictionary.thefreedictionary.com. Retrieved .
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  11. ^ "Heterochromia: MedlinePlus Medical Encyclopedia". Nlm.nih.gov. Retrieved .
  12. ^ Guha M, Maity D (2014). "Heterochromia iridis - a case study". Explor Anim Med Res. 4 (2): 240-245.
  13. ^ "Heterochromia iridis". Genetic and Rare Diseases Information Center (GARD) - an NCATS Program. NIH. 8 April 2015. Retrieved 2019.
  14. ^ van Emelen C, Goethals M, Dralands L, Casteels I (Jan-Feb 2000). "Treatment of glaucoma in children with Sturge-Weber syndrome". Journal of Pediatric Ophthalmology and Strabismus. 37 (1): 29-34. PMID 10714693.
  15. ^ "Sturge-Weber syndrome: Definition and Much More from Answers.com". Answers.com<!. Retrieved .
  16. ^ a b Wallis DH, Granet DB, Levi L (June 2003). "When the darker eye has the smaller pupil". Journal of American Association for Pediatric Ophthalmology and Strabismus. 7 (3): 215-6. doi:10.1016/S1091-8531(02)42020-4. PMID 12825064.
  17. ^ Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M (Jan-Feb 2003). "Clinical findings in Japanese patients with Waardenburg syndrome type 2". Japanese Journal of Ophthalmology. 47 (1): 77-84. doi:10.1016/S0021-5155(02)00629-9. PMID 12586183.
  18. ^ Brazel SM, Sullivan TJ, Thorner PS, Clarke MP, Hunter WS, Morin JD (February 1992). "Iris sector heterochromia as a marker for neural crest disease". Archives of Ophthalmology. 110 (2): 233-5. doi:10.1001/archopht.1992.01080140089033. PMID 1736874.
  19. ^ Liu CSC (August 1999). "A case of acquired iris depigmentation as a possible complication of levobunolol eye drops". British Journal of Ophthalmology. 83 (12): 1405-6. doi:10.1136/bjo.83.12.1403c. PMC 1722884. PMID 10660314.
  20. ^ Yang P, Fang W, Jin H, Li B, Chen X, Kijlstra A (March 2006). "Clinical features of Chinese patients with Fuchs' syndrome". Ophthalmology. 113 (3): 473-80. doi:10.1016/j.ophtha.2005.10.028. PMID 16458965.
  21. ^ Arellanes-Garcia L, del Carmen Preciado-Delgadillo M, Recillas-Gispert C (June 2002). "Fuchs' heterochromic iridocyclitis: clinical manifestations in dark-eyed Mexican patients". Ocular Immunology and Inflammation. 10 (2): 125-31. doi:10.1076/ocii.10.2.125.13976. PMID 12778348.
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  24. ^ Mehta K, Haller JO, Legasto AC (2003). "Imaging neuroblastoma in children". Critical Reviews in Computed Tomography. 44 (1): 47-61. doi:10.1080/10408370390808469. PMID 12627783.
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  26. ^ Khan AO, Aldamesh M (June 2006). "Bilateral Duane syndrome and bilateral aniridia". Journal of American Association for Pediatric Ophthalmology and Strabismus. 10 (3): 273-4. doi:10.1016/j.jaapos.2006.02.002. PMID 16814183.
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  28. ^ Prota, G., Hu, D-N., Vincensi, M.R., McCormick, S.A. and Napolitano, A. (1998) Characterization of Melanins in Human Irides and Cultured Uveal Melanocytes From Eyes of Different Colors, Exp.Eye Res. (1998), 67, pp. 293-299, Article Number: ey980518
  29. ^ "Key Ocular Signs for Screening". Milesresearch.com. Retrieved .
  30. ^ Misk NA, Semieka MA, Fathy A (1998). "Heterochromia iridis in water buffaloes (Bubalus bubalis)". Veterinary Ophthalmology. 1 (4): 195-201. doi:10.1046/j.1463-5224.1998.00036.x. PMID 11397231.

External links


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Heterochromia
 



 



 
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