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Anophthalmia/Microphthalmia

Anophthalmia

Microphthalmia
Anophthalmia and microphthalmia are birth defects of a baby’s
eye(s). Anophthalmia is a birth defect where a baby is born
without one or both eyes. Microphthalmia is a birth defect in
which one or both eyes did not develop fully, so they are small.

What is Anophthalmia and Microphthalmia?


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.1

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.

Like many families of children with a birth defect, CDC wants to


find out what causes them. Understanding the factors that are
more common among babies with a birth defect will help us learn
more about the causes. CDC funds the Centers for Birth Defects
Research and Prevention, which collaborate on large studies
such as the National Birth Defects Prevention Study (NBDPS;
births 1997-2011) and the Birth Defects Study To Evaluate
Pregnancy exposureS (BD-STEPS; began with births in 2014), to
understand the causes of and risks for birth defects, including
anophthalmia and microphthalmia.

CDC continues to study birth defects, such as anophthalmia and


microphthalmia, and how to prevent them. If you are pregnant or
thinking about becoming pregnant, talk with your doctor about
ways to increase your chances of having a healthy baby.

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

 An ophthalmologist, a doctor specially trained to care for


eyes
 An ocularist, a healthcare provider who is specially trained
in making and fitting prosthetic eyes
 An oculoplastic surgeon, a doctor who specializes in
surgery for the eye and eye socket

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
intervention and therapy to help their development and mobility.

Other Resources
The views of this organization are its own and do not reflect the
official position of CDC.

 International Children’s Anophthalmia Network


The International Children’s Anophthalmia &
Microphthalmia Network is a group of families and
professionals dedicated to lending support to individuals
who want to learn more about microphthalmia and
anophthalmia.

References
1. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer
RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A
and the National Birth Defects Prevention Network. Updated
national birth prevalence estimates for selected birth
defects in the United States, 2004-2006. Birth Defects Res A
Clin Mol Teratol. 2010;88(12):1008-16.