Heterochromia iridum
(Redirected from Heterochromia)
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| Heterochromia iridum | |
|---|---|
| Synonyms | Heterochromia iridis |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Different colored irises |
| Complications | Possible association with other syndromes |
| Onset | Congenital or acquired |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic factors, disease, injury, or medication |
| Risks | Family history, certain genetic disorders |
| Diagnosis | Physical examination, medical history |
| Differential diagnosis | Waardenburg syndrome, Horner's syndrome, Fuchs' heterochromic iridocyclitis |
| Prevention | N/A |
| Treatment | None required for heterochromia itself |
| Medication | N/A |
| Prognosis | Generally benign |
| Frequency | Rare |
| Deaths | N/A |
Heterochromia is a variation in coloration that most commonly affects the iris but can also occur in hair or skin. Heterochromia is determined by the production, delivery, and concentration of melanin, a pigment responsible for coloration in various parts of the body. It may be inherited or caused by genetic mosaicism, chimerism, disease, or injury. The condition occurs in humans and certain breeds of domesticated animals.
Types of Heterochromia
Heterochromia can be classified into three main types, based on the affected area:
- Complete Heterochromia: In this type, one iris is a different color than the other. This is the most well-known form of heterochromia.
- Sectoral Heterochromia: Also known as partial heterochromia, this type involves one or both irises having a segment of a different color.
- Central Heterochromia: In this type, the central (pupillary) zone of the iris has a different color than the outer (ciliary) zone.
Causes
Heterochromia can be either congenital (present at birth) or acquired later in life. The most common causes of heterochromia include:
- Genetic inheritance: Heterochromia can be passed down through families, often as an autosomal dominant trait.
- Genetic mosaicism: This occurs when an individual has cells with different genetic compositions. This can result in heterochromia if the affected cells are involved in pigmentation.
- Chimerism: This occurs when an individual has cells from two or more different organisms. This can also lead to heterochromia if the affected cells are involved in pigmentation.
- Disease: Certain diseases, such as Horner's syndrome, Waardenburg syndrome, and Piebaldism, can cause heterochromia.
- Injury: Trauma or inflammation in the eye can sometimes result in acquired heterochromia.
Prevalence
Heterochromia is a rare condition, with estimates suggesting that it affects less than 1% of the population. The prevalence may be slightly higher in certain populations or in individuals with specific genetic conditions.
Associated Conditions
Heterochromia can be associated with various medical conditions, including:
- Horner's syndrome: A neurological disorder that can cause eye-related symptoms such as ptosis (drooping eyelid), miosis (constricted pupil), and heterochromia.
- Waardenburg syndrome: A group of genetic disorders characterized by varying degrees of hearing loss, changes in pigmentation, and heterochromia.
- Piebaldism: A rare genetic disorder characterized by the absence of pigment cells in certain areas of the skin, hair, and eyes, which can lead to heterochromia.
Treatment
Heterochromia itself typically does not require treatment, as it usually does not affect vision or eye health. However, if an underlying medical condition is causing heterochromia, appropriate treatment for the condition may be necessary. In some cases, individuals may choose to wear colored contact lenses to achieve a more uniform appearance of their eyes.
Notable cases and cultural references
Heterochromia has been observed in several famous individuals and fictional characters, such as: David Bowie: The late British musician and actor had a condition called anisocoria, which made his pupils appear different sizes, giving the illusion of heterochromia. Jane Seymour: The British actress has complete heterochromia, with one green eye and one blue eye. Max Scherzer: The American baseball pitcher has complete heterochromia, with one blue eye and one brown eye. In popular culture, heterochromia is often used to give fictional characters a distinctive and exotic appearance. Examples include:
- Yuna from the video game series Final Fantasy
- Kurapika from the manga and anime series Hunter x Hunter
- Aoba Seragaki from the video game and anime series DRAMAtical Murder
Summary
Heterochromia is a variation in coloration. The term is most often used to describe color differences of the iris, but can also be applied to color variation of hair 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. It occurs in humans and certain breeds of domesticated animals.
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Contributors: Prab R. Tumpati, MD