What is Microphthalmia & Anophthalmia & How is it Treated?|Causes, Risk Factors of Microphthalmia & Anophthalmia

What is Microphthalmia and Anophthalmia?

Anophthalmia and microphthalmia are conditions which are the birth defects in a newborn baby’s eyes.(1, 4) Microphthalmia is a congenital eye defect where the baby’s one or both the eyes are not fully developed resulting in small eyes.(1, 3, 4) Anophthalmia is a congenital eye defect where the baby is born without both eyes or one eye.(1)

Development of Microphthalmia and Anophthalmia

Microphthalmia and Anophthalmia develop in the fetus during the pregnancy itself and can occur alone or can also be seen with other birth defects like a part of a syndrome.(2, 4) Microphthalmia and anophthalmia, both these conditions, result in limited vision or blindness in the baby.(5)

What are the Causes and Risk Factors for Microphthalmia and Anophthalmia?

The causes of microphthalmia and anophthalmia and why it develops in vitro is not clear.

Chromosomal Changes: Changes in the chromosomes or genes are thought to cause microphthalmia and anophthalmia in some babies.(2, 4)

Medications: Certain medicines, such as thalidomide or isotretinoin, when taken by the mother during pregnancy can also cause microphthalmia and anophthalmia.(4)

Environmental Factors(2): A combination of genes and factors, such as when the mother comes in contact with some allergen or something she has consumed or certain medicines taken during pregnancy, can also cause microphthalmia and anophthalmia.

How are the Diagnosis of Microphthalmia and Anophthalmia Made?

Microphthalmia and anophthalmia can be easily diagnosed after the baby is born or even during pregnancy itself. Microphthalmia and anophthalmia can easily by diagnosed or identified through ultrasound or a CT scan during the pregnancy(4). Certain genetic testing can also help in diagnosis of microphthalmia and anophthalmia(4). A physical examination of the baby after it is born can easily help diagnose whether the baby is suffering from microphthalmia or anophthalmia.

The doctor will also look for any other birth defects that may be present along with microphthalmia and anophthalmia in the child.

How is Microphthalmia and Anophthalmia Treated?

As of now, there is no specific treatment present for microphthalmia and anophthalmia that will help in restoring the vision or in creating a new eye in the baby suffering from microphthalmia and anophthalmia.(4)

A team of special eye doctors need to be consulted for a baby born with microphthalmia and anophthalmia and these comprise of:

  • An ophthalmologist, a doctor specializing in eye conditions.
  • An oculoplastic surgeon is a doctor specializing in surgery for the eye socket and the eye.
  • An ocularist is a healthcare provider who is trained in making and fitting prosthetic eyes.

Treatment Steps Taken For Children Suffering From Microphthalmia And Anophthalmia

The eye sockets are a vital part of the baby’s anatomy in order for a complete and proper growth of the baby’s face.(4) If a baby is suffering from microphthalmia and anophthalmia, then the bones, which form the eye socket, cannot grow properly.(5)

So, the doctor will fit the babies suffering from microphthalmia and anophthalmia with a conformer, which is a plastic structure that helps the eye socket and its bones to properly grow. As the babies get older, this conformer needs to be changed and enlarged so as to expand the eye socket.(4)

As the children suffering from microphthalmia and anophthalmia grow, they can also be eligible for and be fitted for an artificial eye.

Is Surgery Needed In Children Suffering From Microphthalmia And Anophthalmia?

As the child suffering from microphthalmia and anophthalmia grows, eye specialists should frequently monitor children with these conditions early in life. If the child suffers other eye conditions, such as detached retina or cataract then surgery may be needed to repair these conditions.(4)

If microphthalmia and anophthalmia are only in one eye of the baby, then the parents are guided on ways to preserve and protect sight in the healthy eye by their ophthalmologist. According to the severity of microphthalmia and anophthalmia, the decision to perform the surgery is based. A team of eye specialists are the best people to come up with the best plan of action.

Babies born with microphthalmia and anophthalmia also benefit from early intervention and therapy to help with their mobility and development; in fact this should be made an essential part of their growth.

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