Don’t fight Heterochromia iridis alone.
Find your community on the free RareGuru App.Heterochromia iridis is characterized by color differences of the iris (the colored part of the eye), either between the eyes or within one eye. In people with complete heterochromia, the iris of one eye is a different color than the iris of the other eye. Segmental heterochromia occurs when areas of the same iris are different in color. Most cases of heterochromia iridis occur sporadically and are not associated with any other symptoms or problems. Rarely, heterochromia iridis is part of a congenital (present from birth) syndrome such as Waardenburg syndrome, Sturge-Weber syndrome, Parry-Romberg syndrome, or Horner's syndrome. Treatment for people with heterochromia iridis may only be needed if there is an underlying syndrome causing health problems.
Source: GARD Last updated on 05-01-20
Eye color is determined by the concentration and distribution of melanin (a pigment) in the iris. A variety of genetic and acquired (non-genetic) factors influence the final outcome and continued maintenence of the iris color.
Most cases of heterochromia iridis occur sporadically and are not associated with any additional symptoms or health problems. Acquired factors that may lead to heterochromia iridis include:
Rarely, heterochromia iridis may be part of a congenital (present from birth) syndrome, such as Waardenburg syndrome, Sturge-Weber syndrome, congenital Horner's syndrome, or Parry-Romberg syndrome. Waardenburg syndrome (due to mutations in many different genes) and Sturge-Weber syndrome (due to somatic mutations in the GNAQ gene) have genetic causes. The exact underlying cause of Horner's syndrome and Parry-Rombery syndrome is currently unknown. Later-onset cases of heterochromia iridis may be associated with a syndrome called Fuchs heterochromic iridocyclitis, which also has an unkown cause.
Last updated on 05-01-20
Most cases of heterochromia iridis occur sporadically in people with no family history of heterochromia iridis. However, heterochromia iridis rarely is part of an inherited genetic syndrome. For example, heterochromia iridis is reported in some people with Waardenburg syndrome, which is generally inherited in an autosomal dominant manner.
Last updated on 05-01-20
Rennie IG. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris. Eye (Lond). 2012 Jan;26(1):29-50.
Last updated on 04-27-20
The American Academy of Ophthalmology offers a summary on heterochromia, which includes a list of possible causes.
Last updated on 04-27-20
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