Heterochromia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Luke Rusowicz-Orazem, B.S.

Overview

File:Heterochromia.jpg
An example of heterochromia in a human. The subject has one brown and one hazel eye.
File:DogEye2color cr wb.jpg
Blue merle Border Collie with blue-and-brown eye.

In anatomy, heterochromia refers to a difference in coloration, usually of the irises but also of hair or skin.

Heterochromia (also known as a heterochromia iridis or heterochromia iridium) is an eye condition in which one iris is a different color from the other (complete heterochromia), or where part of one iris is a different color from the remainder (partial heterochromia or sectoral heterochromia). It is a result of the relative excess or lack of pigment within an iris or part of an iris, which may be genetically inherited or due to mosaicism, or acquired by disease or injury.[1]

Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin pigment within the iris tissues[2][3][4]. Consequently, anything affecting those factors may result in a difference of color being observed.

The affected eye may be hyperpigmented (hyperchromic) or hypopigmented (hypochromic).[5] An excess of pigmentation is usually associated with hyperplasia of the iris tissues whereas a lack of pigmentation is associated with hypoplasia. Although seen in humans, heterochromia in which one iris differs in color from the other iris is more frequently observed in non-human species such as cats (for example, Japanese Bobtails and Turkish Vans; white, shorthaired cats can be "odd-eyed" with one copper or orange eye and one blue eye, and the Turkish Angora), dogs (for example, Siberian Huskies as well as Australian Shepherds, Border Collies, and other breeds with merle coats), horses (so-called "wall-eyed" horses have one brown and one white or blue eye), and even water buffalo.[6] Partial or sectoral heterochromia is much less common than complete heterochromia and is typically found in autosomally inherited disorders such as Hirschsprung's disease and Waardenburg syndrome. Famous comedian Dan Akroyd has this condition.

Classification based on etiology

File:Sectoral heterochromia.jpg
An example of sectoral heterochromia. The subject has a blue iris with a brown section.
File:Heterochromiairidis.jpg
Other example of sectoral heterochromia. The subject has a green eye with a dark brown line.
Congenital heterochromia is inherited in an autosomal dominant fashion.

Although a distinction is frequently made between heterochromia that affects an eye completely or only partially, 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.[7]

Congenital heterochromia

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

Abnormal iris darker
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[9] - sometimes inherited, although usually acquired
  • Waardenburg's syndrome[9] - a syndrome in which heterochromia presents 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.[10]
  • 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.[11]
  • Incontinentia pigmenti[5]
  • Parry-Romberg syndrome[5]

Acquired heterochromia

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

File:Cat Eyes.jpg
A cat with heterochromia; It has one blue and one green eye
Abnormal iris darker
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 irises. It is often most easily seen in daylight. The prevalence of heterochromia associated with Fuch's has been estimated in various studies[12][13][14] with results suggesting that there is more difficulty recognizing iris color changes in dark-eyed individuals.[14][15]
  • Acquired Horner's syndrome - usually acquired, as in neuroblastoma,[16] 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.[17][18]

Causes

Life Threatening Causes

Common Causes

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning Isopropyl unoprostone
Dental No underlying causes
Dermatologic Juvenile xanthogranuloma, Lisch nodules , Sturge-weber syndrome 
Drug Side Effect Bimatoprost, Isopropyl unoprostone, Latanoprost, Travoprost
Ear Nose Throat No underlying causes
Endocrine Lymphoma
Environmental Foreign body in eye
Gastroenterologic Hirschsprung's disease 
Genetic Chromosome 8 trisomy syndrome , Duane syndrome, Hirschsprung's disease , Incontinentia pigmenti, Inherited trait, Iridocorneal endothelium syndrome, Piebaldism, Waardenburg's syndrome
Hematologic Eye hemorrhage, Leukemia , Rubeosis iridis, Siderosis
Iatrogenic No underlying causes
Infectious Disease Chronic iritis, Uveitis
Musculoskeletal/Orthopedic No underlying causes
Neurologic Acquired horner's syndrome, Congenital horner's syndrome, Glaucoma, Neurofibromatosis, Ocular melanosis, Sturge-weber syndrome 
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic Leukemia , Lymphoma, Neoplasm , Ocular melanosis
Ophthalmologic Acquired horner's syndrome, Chronic iritis, Congenital horner's syndrome, Duane syndrome, Eye hemorrhage, Eye injury, Foreign body in eye, Fuchs' heterochromic cyclitis, Fuch's heterochromic iridis, Fuchs' heterochromic iridocyclitis, Glaucoma, Hypoplasia, Incontinentia pigmenti, Inherited trait, Iridocorneal endothelium syndrome, Iris ectropion syndrome, Pigment dispersion syndrome, Rubeosis iridis, Uveitis
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary Hemosiderosis, Siderosis
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy Neurofibromatosis, Parry-romberg syndrome
Sexual No underlying causes
Trauma Eye injury
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

See also

References

  1. Imesch PD, Wallow IH, Albert DM. "The color of the human eye: a review of morphologic correlates and of some conditions that affect iridial pigmentation." Surv Ophthalmol. 1997 Feb;41 Suppl 2:S117-23. PMID 9154287.
  2. Wielgus AR, Sarna T. "Melanin in human irides of different color and age of donors." Pigment Cell Res. 2005 Dec;18(6):454-64. PMID 16280011.
  3. Prota G, Hu DN, Vincensi MR, McCormick SA, Napolitano A. "Characterization of melanins in human irides and cultured uveal melanocytes from eyes of different colors." Exp Eye Res. 1998 Sep;67(3):293-9. PMID 9778410.
  4. "All About Eye Color" from Larry Bickford
  5. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 5.8 Loewenstein, John; Scott Lee (2004). Ophthalmology: Just the Facts. New York: McGraw-Hill. ISBN 0-07-140332-9.
  6. Misk NA, Semieka MA, Fathy A. "Heterochromia iridis in water buffaloes (Bubalus bubalis)." Vet Ophthalmol. 1998;1(4):195-201. PMID 11397231.
  7. Swann P. "Heterochromia." Optometry Today. January 29, 1999. Accessed November 1, 2006.
  8. van Emelen C, Goethals M, Dralands L, Casteels I. "Treatment of glaucoma in children with Sturge-Weber syndrome." J Pediatr Ophthalmol Strabismus. 2000 Jan-Feb;37(1):29-34. PMID 10714693.
  9. 9.0 9.1 Wallis DH, Granet DB, Levi L. "When the darker eye has the smaller pupil." J AAPOS. 2003 Jun;7(3):215-6. PMID 12825064.
  10. Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki M. "Clinical findings in Japanese patients with Waardenburg syndrome type 2." Jpn J Ophthalmol. 2003 Jan-Feb;47(1):77-84. PMID: 12586183.
  11. Brazel SM, Sullivan TJ, Thorner PS, Clarke MP, Hunter WS, Morin JD. "Iris sector heterochromia as a marker for neural crest disease." Arch Ophthalmol. 1992 Feb;110(2):233-5. PMID 1736874
  12. Yang P, Fang W, Jin H, Li B, Chen X, Kijlstra A. "Clinical features of Chinese patients with Fuchs' syndrome." Ophthalmology. 2006 Mar;113(3):473-80. Epub 2006 Feb 3. PMID 16458965.
  13. Arellanes-Garcia L, del Carmen Preciado-Delgadillo M, Recillas-Gispert C. "Fuchs' heterochromic iridocyclitis: clinical manifestations in dark-eyed Mexican patients." Ocul Immunol Inflamm. 2002 Jun;10(2):125-31. PMID 12778348.
  14. 14.0 14.1 Tabbut BR, Tessler HH, Williams D. "Fuchs' heterochromic iridocyclitis in blacks." Arch Ophthalmol. 1988 Dec;106(12):1688-90. PMID 3196209.
  15. Bloch-Michel E. "[Fuchs heterochromic cyclitis: current concepts.]" J Fr Ophtalmol. 1983;6(10):853-8. PMID 6368659.
  16. Mehta K, Haller JO, Legasto AC. "Imaging neuroblastoma in children." Crit Rev Comput Tomogr. 2003;44(1):47-61. PMID 12627783.
  17. Khan AO, Aldamesh M. "Bilateral Duane syndrome and bilateral aniridia." J AAPOS. 2006 Jun;10(3):273-4. PMID 16814183.
  18. Shauly Y, Weissman A, Meyer E. "Ocular and systemic characteristics of Duane syndrome." J Pediatr Ophthalmol Strabismus. 1993 May-Jun;30(3):178-83. PMID 8350229.

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