Anophthalmia

Anophthalmia is a medical term that is used to describe the absence of the globe and ocular (eye) tissue from the orbit. It may affect one eye with the other eye being normal, or both eyes, resulting in blindness. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. The condition has been reported to be present in 3 out of every 100,000 births.

Anophthalmia can congenital (present at birth) or acquired later in life. Parents that already have a child who suffers from anophthalmia has a 1 in 8 chance of having another child with the same condition. It is one of the leading causes of congenital blindness and accounts for 3-11% of blindness in children.

There are three classifications for this condition:

1. Primary Anophthalmia is a complete absence of eye tissue due to a failure of the part of the 1. brain that forms the eye.

2. Secondary Anophthalmia the eye starts to develop and for some reason stops, leaving the infant with only residual eye tissue or extremely small eyes which can only be seen under close examination.

3. Degenerative Anophthalmia the eye started to form and, for some reason, degenerated. One reason for this occurring could be a lack of blood supply to the eye

With the use of Ultrasounds the earliest to detect Anophthalmia this way is approximately 20 weeks. There is no treatment for severe anophthalmia that will create a new eye or restore vision.

What are the causes of Anopthalmia?

  • Causes of this condition may be genetic mutations and abnormal chromosomes.
  • There is also the belief that Anopthalmia may occur due to environmental factors such as exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses. But this research is inconclusive.
  • What are the symptoms of Anophthalmia?

  • The presence of no eyes at birth.
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