Anophthalmia
Anophthalmia
Anophthalmia (pronounced: an-off-thal-mia) is a rare medical condition characterized by the absence of one or both eyes. It is derived from the Greek words "an" meaning without, and "ophthalmos" meaning eye.
Definition
Anophthalmia refers to a complete absence of ocular tissue in the orbit, which is the bony socket containing the eye. This condition can be either congenital (present at birth) or acquired later in life due to trauma, disease, or surgical removal.
Causes
The exact cause of anophthalmia is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some cases have been associated with mutations in the SOX2 gene. Other potential causes include exposure to certain drugs or chemicals during pregnancy, maternal vitamin A deficiency, and certain infections during pregnancy.
Symptoms
The most obvious symptom of anophthalmia is the absence of one or both eyes. Other symptoms can include small or missing eye sockets, droopy eyelids, and other facial abnormalities. Individuals with anophthalmia may also have other physical or developmental issues.
Treatment
There is no cure for anophthalmia, but treatment can help improve the appearance of the eye area and support the development of vision-related skills. Treatment options can include the use of artificial eyes or ocular prosthetics, surgery to enlarge the eye sockets, and supportive therapies such as occupational therapy or vision services.
Related Terms
- Microphthalmia: A condition where one or both eyes are abnormally small.
- SOX2: A gene associated with eye development.
- Ocular prosthetics: Artificial eyes used to replace a missing or damaged eye.
External links
- Medical encyclopedia article on Anophthalmia
- Wikipedia's article - Anophthalmia
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