Anophthalmia

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Anophthalmia and microphthalmia develop during pregnancy and can occur alone, with other birth defects, or as part of a syndrome. Anophthalmia and microphthalmia often result in blindness or limited vision.

Occurrence

Anophthalmia and microphthalmia are rare. Researchers estimate that about 1 in every 5,300 babies born in the United States will have anophthalmia or microphthalmia.1 This means about 780 U.S. babies are born with these conditions each year.

Causes and Risk Factors

The causes of anophthalmia and microphthalmia among most infants are unknown. Some babies have anophthalmia or microphthalmia because of a change in their genes or chromosomes. Anophthalmia and microphthalmia can also be caused by taking certain medicines, like isotretinoin (Accutane®) or thalidomide, during pregnancy. These medicines can lead to a pattern of birth defects, which can include anophthalmia or microphthalmia. These defects might also be caused by a combination of genes and other factors, such as the things the mother comes in contact with in the environment or what the mother eats or drinks, or certain medicines she uses during pregnancy.

Diagnosis

Anophthalmia and microphthalmia can either be diagnosed during pregnancy or after birth.

Diagnosis

  • During pregnancy, doctors can often identify anophthalmia and microphthalmia through an ultrasound or a CT scan (special x-ray test) and sometimes with certain genetic testing.
  • After birth, a doctor can identify anophthalmia and microphthalmia by examining the baby. A doctor will also perform a thorough physical exam to look for any other birth defects that may be present.

Treatment

There is no treatment available that will create a new eye or that will restore complete vision for those affected by anophthalmia or microphthalmia. A baby born with one of these conditions should be seen by a team of special eye doctors:

The eye sockets are critical for a baby’s face to grow and develop properly. If a baby has one of these conditions, the bones that shape the eye socket may not grow properly. Babies can be fitted with a plastic structure called a conformer that can help the eye socket and bones to grow properly. As babies get older, these devices will need to be enlarged to help expand the eye socket. Also, as children age, they can be fitted for an artificial eye.

A team of eye specialists should frequently monitor children with these conditions early in life. If other conditions arise, like a cataract or detached retina, children might need surgery to repair these other conditions. If anophthalmia or microphthalmia affects only one eye, the ophthalmologist can suggest ways to protect and preserve sight in the healthy eye. Depending on the severity of anophthalmia and microphthalmia, children might need surgery. It is important to talk to their team of eye specialists to determine the best plan of action.

Babies born with these conditions can often benefit from early interventionExternal and therapy to help their development and mobility.


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