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Heterochromia Iridium Causes

Mar 06, 2012 > Various
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.

Heterochromia Iridium Causes

This is another physical sign where a good observation can pay dividend at the beginning of the examination. The heterochromia is usually best seen in a well-lit environment. There are many causes of heterochromia iridis, however, if the heterochromia forms the main part of the examination (for example 'Look at this patient's eye and do the necessary examination') the most likely case is siderosis bulbi. Remember that the abnormal eye can be the eye with either the darker as in siderosis bulbi or the lighter iris for example congenital Horner's syndrome or Fuchs' heterochromic iridis.

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.

Heterochromia Iridium Causes

Specific causes of eye color changes include:

  • Bleeding (hemorrhage)
  • Familial heterochromia
  • Foreign object in the eye
  • Glaucoma, or some medications used to treat it
  • Injury
  • Mild inflammation affecting only one eye
  • Waardenburg syndrome
Heterochromia iridium (two different-colored eyes within a single individual) and heterochromia iridis (a variety of color within a single iris) are relatively rare in humans and result from increased or decreased pigmentation of the iris. Most cases are isolated and sporadic, conceivably resulting from an alteration in the expression of the above-mentioned genes (and those we have yet to find) within the cells of the entire iris or even a particular section. Other potential causes include trauma around the time of birth or later in life, congenital pigmented nevi or even medications such as those used in the treatment of glaucoma. There are a few well-known syndromes of which heterochromia iridis is a striking feature. Waardenburg syndrome type 1, an autosomal dominant disorder caused by mutations in the PAX3 gene, is characterized by pigmentary disturbances of the iris, hair and skin, as well as congenital sensorineural hearing loss. But two different eye colors tends to be an isolated finding, which adds to the seemingly endless and fascinating variation in humans' physical characteristics.

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