Anophthalmia is a birth defect where a baby is born without one or both eyes.
Both the globe (human eye) and the ocular tissue are missing from the orbit.
Anophthalmia develops during pregnancy and can occur alone, with other birth defects, or as part of a syndrome. Anophthalmia often results in blindness or limited vision.
Primary anophthalmia is a complete absence of eye tissue due to a failure of the part of the brain that forms the eye.
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.
The causes of anophthalmia among most infants are unknown. Some babies have anophthalmia because of a change in their genes or chromosomes. Anophthalmia can also be caused by taking certain medicines, like isotretinoin or thalidomide, during pregnancy. These medicines can lead to a pattern of birth defects, which can include anophthalmia. 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.
Anophthalmia can either be diagnosed during pregnancy or after birth. During pregnancy, doctors can often identify anophthalmia through an ultrasound or a CT scan (special x-ray test) and sometimes with certain genetic testing. After birth, a doctor can identify anophthalmia by examining the baby. A doctor will also perform a thorough physical exam to look for any other birth defects that may be present.
There is no treatment available that will create a new eye or that will restore complete vision for those affected by anophthalmia.
An oculoplastic surgeon, a doctor who specializes in surgery for the eye and eye socket should be sought.
The eye sockets are critical for a baby’s face to grow and develop properly. If a baby has this condition, 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.
There is a medical condition similar to ANOLPHTHALMIA which shares similar causes and risk factors:
Microphthalmia is a birth defect in which one or both eyes did not develop fully, so they are small.