Heterochromia

Considerations:
Heterochromia is rarely seen in humans. Heterochromia appears quite commonly in dogs such as Dalmatians and Australian sheep dogs, and in cats and horses. Heterochromia in humans appears either as a hereditary trait unassociated with other disease, or as a symptom of various syndromes.

Common Causes:
  • familial heterochromia (autosomal dominant transmission)
  • Waardenberg syndrome

Note: There may be other causes of heterochromia. This list is not all inclusive, and the causes are not presented in order of likelihood. The causes of this symptom can include unlikely diseases and medications. Furthermore, the causes may vary based on age and gender of the affected person, as well as on the specific characteristics of the symptom such as any associated complaints. Use the Symptom Analysis option to explore the possible explanations for heterochromia, occurring alone or in combination with other problems.

Home Care:
Consult your health care provider.

Call Your Healthcare Provider If:
(If concerned about heterochromia, consult with your health care provider during a routine visit.)

What to Expect:
The medical history will be obtained and a physical examination performed.

Medical history questions documenting heterochromia in detail may include:

  • Were the two different colored eyes noticed when the child was born or shortly after the birth?
  • Exactly which eye appears which color?
  • Are any other symptoms present?

Physical examination:
An infant with heterochromia should be examined for other problems.

Diagnostic tests:
If there is no indication that there is a disorder, no testing may be necessary. If another disorder is suspected, diagnostic tests may be performed to confirm the diagnosis. This may include various blood tests, chromosome studies , or others.

After seeing your health care provider:
Was a disorder diagnosed as the cause, or is it an inherited trait? If a disorder was diagnosed, you may want to note that diagnosis in your personal medical record. If the heterochromia is an inherited trait, you may still want to note it in your medical record.


Heterochromia is a condition in which the eyes are differently colored. Heterochromia can be associated with some medical conditions, but the majority of people with heterochromia do not have a medical problem. This individual also exhibits another finding called anisocoria, which means that the pupils are different sizes. This finding is usually medically significant.