What are anophthalmia and microphthalmia?
Anophthalmia and microphthalmia are eye conditions that people are born with. Anophthalmia is when a baby is born without one or both of their eyes. Microphthalmia is when one or both of a baby’s eyes are small. Both conditions are rare, and can cause vision loss or blindness.
There’s no treatment that can create a new eye or bring vision back for people born with anophthalmia or microphthalmia. But early treatment can help babies and children with these conditions grow and develop.
What health problems do people with anophthalmia and microphthalmia have?
Anophthalmia and microphthalmia can cause vision problems and blindness. People with these conditions may also have small eye sockets (the bones around the eye). This can change the shape of their face.
People with microphthalmia may have other eye conditions, including:
- Coloboma (when normal tissue in or around the eye is missing)
- Cataract (a cloudy area in the lens of the eye)
- Microcornea (when the clear outer layer at the front of the eye is small and unusually curved)
People with anophthalmia or microphthalmia may also have birth defects that cause other health problems.
What causes anophthalmia and microphthalmia?
Most of the time, doctors don’t know what caused anophthalmia or microphthalmia. These conditions may be caused by:
Changes in genes. Some babies have anophthalmia or microphthalmia because of changes in their genes (genetic mutations). These changes happen during pregnancy, before the baby is born. These changes may also cause other birth defects.
Taking certain medicines during pregnancy. Some medicines can cause anophthalmia and microphthalmia if you take them when you’re pregnant. This includes isotretinoin (Accutane, a medicine that treats severe acne) and thalidomide (a medicine that treats certain skin problems and some types of cancer).
Coming into contact with harmful things in the environment could also cause anophthalmia and microphthalmia. This may include coming into contact with:
Experts think a combination of genes and other factors, like harmful things in your environment, could also cause anophthalmia and microphthalmia.
How can I lower my baby’s risk of having anophthalmia and microphthalmia?
Talk to your doctor about ways to reduce your baby’s risk of having anophthalmia and microphthalmia. Some things you can do include:
- Getting a checkup before you’re pregnant
- Talking to your doctor about medicines you take
- Visiting a genetic counselor (someone who helps you understand your genes)
- Seeing your doctor regularly for prenatal care (health care you get during pregnancy)
- Staying away from harmful things in the environment
How will I know if my baby has anophthalmia or microphthalmia?
Your doctor can diagnose these conditions during pregnancy or after your baby is born.
During pregnancy, doctors can check for anophthalmia and microphthalmia with these tests:
- Ultrasound (a type of imaging to look at structures in the body)
- CT scan (a type of X-ray)
- Genetic testing (tests on blood and other tissue to find genetic disorders)
After your baby is born, the doctor can diagnose anophthalmia or microphthalmia by doing an exam.
What's the treatment for anophthalmia and microphthalmia?
Doctors don’t have a treatment that will create a new eye or restore vision. But early treatment can still help people with anophthalmia and microphthalmia.
Devices. Babies and children with anophthalmia or microphthalmia may need special devices called conformers to help their eye socket grow and develop. They may also wear a prosthetic eye to change how they look and help their eye socket grow. Learn more about devices for anophthalmia and microphthalmia.
Protective eyewear. Babies born with vision in only 1 eye need to wear prescription eyeglasses or safety goggles to protect that eye from injury. Your child’s doctor can recommend the best type of eye protection for them.
Patch. Children with microphthalmia may still have some vision in their smaller eye. Wearing a patch on their other eye may help strengthen vision in the smaller eye by forcing the brain to use it to see.
Surgery. Children with anophthalmia or microphthalmia may need surgery to make their eye socket bigger, to fill out their eye socket, or to help devices fit better. They may also need surgery to treat other eye problems, like cataracts.
If your child has anophthalmia or microphthalmia, it’s important to talk to all of their doctors about the best plan for their care. Babies with anophthalmia or microphthalmia also need early intervention and therapy — special services to help them grow and develop. Learn more about early intervention.
Which doctors can help treat anophthalmia and microphthalmia?
Babies with anophthalmia or microphthalmia will need to see a team of doctors, including:
- Ophthalmologist — a doctor who specializes in vision and eye care
- Orbital and oculoplastic surgeon — a doctor who specializes in surgery to reshape the area in and around the eye
- Ocularist — someone specially trained to make and fit prosthetic eyes
If your child has anophthalmia or microphthalmia, they’ll need to see other doctors too.
What’s the latest research on anophthalmia and microphthalmia?
Researchers at NEI’s Ophthalmic Genetics clinic see patients with anophthalmia and microphthalmia.
If you’re interested in participating in a clinical trial on genes involved in eye diseases — including anophthalmia and microphthalmia — visit ClinicalTrials.gov.
To learn more about anophthalmia and microphthalmia or to take part in other research on these conditions, visit our Rare Diseases page.