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Writer's pictureAtanas Bogoev M.D. and Maria Cholakova

Heterochromia

How curious and fascinated are you with different colored eyes? The condition known as heterochromia is visually striking and raises so many questions, right? If you want to learn about the types, causes, development, and heterochromia rarity, keep reading. We will share extensive details about heterochromia eyes and address common queries you may have.


Understanding Heterochromia


Heterochromia iridum, also heterochromia iridis, is a condition where a person has both eyes with different colors.


The difference occurs due to variations in the amount and distribution of melanin in the iris, the pigment responsible for eye color.

More melanin produces darker eyes. Less melanin produces lighter eyes.

Heterochromia eyes can be present at birth or develop later in life due to genetics, injury, use of medication or chronic illness.


lady with heterochromia eyes

What Causes Heterochromia?


Genetic factors play a pivotal role. Certain genes can influence the expression of eye color, resulting in heterochromia in some cases. Injury or eye trauma can also cause changes in melanin distribution, causing a noticeable difference in eye color.


Is Heterochromia Permanent?


Once a person develops the condition, at birth or later in life, the difference in eye color tends to persist throughout their lifetime. Heterochromia doesn't go away on its own but may have external influence (medical problem or injury).


Are Heterochromia Eyes Rare?


The diagnosis is relatively rare in the general population and affects less than 1%. Complete heterochromia is less common than sectoral (partial) heterochromia.


Does Heterochromia Affect Vision or Cause Blindness?


Heterochromia is generally harmless and doesn't affect vision. It also doesn't cause blindness by itself.


From a medical view, doctors tend to associate heterochromia eyes with certain syndromes or conditions. So a thorough eye examination with an ophthalmologist may be necessary.


While the visual difference between the eyes is very noticeable, it's most often not a cause for concern. Many people with heterochromia lead normal, healthy lives.



Can Heterochromia be Passed Down or Inherited?


Yes. Heterochromia Iridum can be passed down or inherited. Genetic factors influence eye color a lot. If one or both parents have heterochromia or carry genetic variations for eye color, their offspring may inherit the trait. The inheritance pattern can be complex, and it may depend on the specific genes at play.


Heterochromia Types


There are two main types of heterochromia: complete and sectoral.


Complete heterochromia means each eye is a completely different color. Sectoral heterochromia involves one eye having two distinct colors.


In theory, a person can have two types of heterochromia at the same time, but it would be an extremely rare case for the study books! It's usually either one type or the other:


1. Complete Heterochromia


Complete heterochromia eyes

Complete heterochromia is a condition in which each eye exhibits a distinct coloration. That's due to variations in melanin levels and distribution.


The varying hues of the iris arise from genetic factors influencing the expression of pigmentation genes. The result is an appearance both unique and striking.


Example:

One eye is blue and the other green.


2. Sectoral Heterochromia


sectoral heterochromia

Sectoral (partial) heterochromia manifests as two different colors within the iris of a single eye. The phenotype indicates localized variations in melanin distribution.


This form of heterochromia eyes can occur due to genetic influences. But sometimes it's a result of injuries or trauma to the eye, altering the melanin concentration in specific areas of the iris.


Example:

One eye is blue and the other predominantly blue with a distinct segment of brown.


Heterochromia Myths


Myths about the striking condition with contrasting iris colors have been going around for centuries. The most popular ones being the "vanishing twin" concept and the vitiligo connection to heterochromia. Let's bust those myths today!


Do People with Vitiligo Also Have Heterochromia?


Vitiligo is a skin condition causing depigmentation. In rare cases, it may lead to iris inflammation (iritis). The iritis could make the eyes appear lighter, resembling heterochromia, but it's distinct. Ocular vitiligo is NOT the same as heterochromia.

The Heterochromia "Vanishing Twin" Theory


The term "vanishing twin" refers to an early pregnancy phenomenon. When a twin or the mother's body allegedly absorbs the other twin, leading to a single surviving twin. The phenomenon relates to multiple pregnancies and is distinct from heterochromia.


There is not enough medical research to support this theory yet. However, there is knowledge of how congenital heterochromia works. We know that it occurs as part of embryonal development. That's before, in theory, one twin could absorb the other.



girl with heterochromia

Rare Health Conditions Potentially Linked to Heterochromia


Here are a few uncommon health issues that may relate to having heterochromia:


  • Waardenburg Syndrome. A rare genetic disorder that alters the color of the eyes, skin, and hair. Heterochromia, along with hearing loss, is one of the prominent features of this syndrome.

  • Horner's Syndrome. A neurological condition affecting sympathetic nerves in the eye. May lead to heterochromia, with the affected eye appearing lighter in color.

  • Sturge-Weber Syndrome. A rare neurological disorder with facial port-wine stains, glaucoma, and neurological abnormalities. Heterochromia symptoms may occur as part of the eye manifestations of the syndrome.

  • Neurofibromatosis. A genetic disorder in which tumors form on nerve tissue. Differences in eye colors can be associated with neurofibromatosis type 1 (NF1), a specific form of the disorder.

  • Tuberous Sclerosis Complex. A genetic disorder that causes noncancerous tumors to develop in the organs, including the eyes. Spots on the iris resembling heterochromia may occur as an eye manifestation.

Additional research and upcoming scientific studies in the next few years can paint a clearer picture of how and to what extent heterochromia iridum is linked to these diseases.

For a more extensive list of related conditions, along with scientific references, check out this page.


In summary...


We hope this article made you a bit more knowledgeable and a bit more curious today! We would love to hear your feedback and opinion. Get in touch with the Ophtahlmology24 team on social media: Facebook, Threads, and Instagram.


blue and brown heterochromia

If you or anyone around you has concerns about eye color changes - consult an eye doctor. Heterochromia diagnosis is only accurate and relevant after a thorough eye exam.


Resources:


Checked by Atanas Bogoev, MD.

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