Anophthalmia and Microphthalmia: When a Baby's Eyes Don't Form Fully

About 1 in every 4,762 babies in the United States is born with anophthalmia or microphthalmia, researchers estimate. These birth defects of the eye often cause blindness or limited vision — and because a baby's face grows around the eye sockets, care begins early, with a team of specialists.

Two related birth defects

Anophthalmia may affect one or both eyes. Credit: Centers for Disease Control and Prevention.

Both develop during pregnancy. They can occur on their own, alongside other birth defects, or as part of a syndrome.

Causes

For most babies, the cause is unknown. Known causes include:

• certain changes in the baby's genes or chromosomes;
• the use of certain medicines during pregnancy, such as isotretinoin (Accutane®) or thalidomide.

Diagnosis

The conditions can be diagnosed during pregnancy, with an ultrasound or a CT scan (a special x-ray test), or after birth, when a provider examines the baby. The provider should also do a thorough physical exam to look for other birth defects.

Microphthalmia occurs when a baby's eye or eyes do not develop completely. Credit: Centers for Disease Control and Prevention.

Care as a child grows

No treatment can create a new eye or fully restore vision. A baby with either condition should be seen by a team of eye specialists:

• an ophthalmologist, trained to care for eyes;
• an ocularist, trained to make and fit prosthetic eyes;
• an oculoplastic surgeon, who specializes in surgery of the eye and eye socket.

The eye sockets are critical to how a baby's face grows, and with these conditions the bones around the socket may not grow properly. Babies can be fitted with a plastic structure called a conformer to help the socket and bones grow; it is enlarged as the baby gets older, and later the child can be fitted with an artificial eye.

Specialists should monitor children closely early in life, since other problems, such as a cataract or a detached retina, may need surgery. When only one eye is affected, the ophthalmologist can suggest ways to protect sight in the healthy eye. Babies born with these conditions often benefit from early intervention and therapy to help their development and mobility.

Sources

Based on "Anophthalmia/Microphthalmia," Centers for Disease Control and Prevention; a work of the United States government in the public domain. Families can find support from the International Children's Anophthalmia Network, a group of families and professionals; its views are its own, not CDC's.