Anophthalmia and microphthalmia

KEY POINTS

  • Anophthalmia and microphthalmia are rare birth defects of the eye that can cause vision problems or blindness.

  • Anophthalmia is when a baby is born without one or both eyes. Microphthalmia is when one or both eyes don’t form correctly and are small.

  • Taking the medicines isotretinoin or thalidomide during pregnancy can cause these birth defects. 

  • If you take either medicine, use effective birth control to prevent pregnancy. Tell your provider if you’re thinking about getting pregnant.

  • Early treatment for anophthalmia and microphthalmia is important for your baby’s health and development.

What are anophthalmia and microphthalmia?

Anophthalmia and microphthalmia are birth defects of the eye. Birth defects are structural changes present at birth that can affect almost any part of the body. They may affect how the body looks, works or both. Birth defects can cause problems in overall health, how the body develops or how the body works.

Anophthalmia is when a baby is born without one or both eyes. Microphthalmia is when one or both eyes don’t form correctly and are small. Some babies with microphthalmia look like they’re missing one or both eyes, but they still have some eye tissue. Anophthalmia and microphthalmia can cause vision problems or blindness. 

Anophthalmia and microphthalmia are rare. About 1 in 5,300 babies is born with these conditions in the United States each year. 

What health or development problems can babies with anophthalmia or microphthalmia have?

Some babies with microphthalmia have other eye conditions, including:

  • Coloboma. This eye condition develops before birth. It happens when pieces of tissue are missing in certain structures that form the eye. These missing tissues are called colobomas. Colobomas can look like gaps or marks in the eye. Colobomas can happen in one or both eyes, and sometimes they cause vision problems. 
  • Cataracts. A cataract is when the lens of the eye is cloudy. The lens is the tissue inside the eye that helps focus the light coming into your eye. The lens is normally clear. Cataracts can happen in one or both eyes. Sometimes cataracts cause vision problems or blindness.

Babies with anophthalmia or microphthalmia may have birth defects or health problems that affect other organs and tissues. This is called syndromic. For example, some babies with anopthalmia or microphtalmia also have a condition called SOX2 anophthalmia syndrome. Babies with SOX2 anophthalmia syndrome may have seizures, brains problems, slow growth, developmental delays and learning disabilities. When anophthalmia or microphthalmia is the only condition a baby has, it’s called nonsyndromic or isolated.

How do you know if your baby has anophthalmia or microphthalmia?

Anophthalmia and microphthalmia can be diagnosed during pregnancy or after your baby is born. 

During pregnancy

You may have prenatal tests (medical tests you get during pregnancy) to check your baby for birth defects. Providers can sometimes diagnose anophthalmia and microphthalmia with these tests:

  • Ultrasound. This test uses sound waves and a computer screen to show a picture of your baby inside the womb.
  • Genetic testing. If you have a family history of anophthalmia or microphthalmia, or a test like ultrasound shows your baby may these conditions, your baby’s provider may use genetic tests to check your baby’s genes or chromosomes. 
  • Computed tomography (also called CT or CAT scan). CT scans use special X-ray equipment and powerful computers to make pictures of the inside of your baby’s body. Because CT scans use radiation, your provider may wait until your baby’s born to do a scan or your provider modify the test to reduce the amount of radiation you’re exposed to during pregnancy. You and your provider can talk about the benefits and risks of CT scans during pregnancy and decide what’s best for you.

After your baby is born

Your baby’s provider gives him a physical exam to diagnose anophthalmia and microphthalmia and check for other birth defects.

What health care providers treat anophthalmia and microphthalmia?

 There’s no treatment to create new eyes or bring back eyesight, but early treatment helps babies with anophthalmia or microphthalmia in other ways. Your baby may have a team of providers who work together to treat these conditions. The team can include these eye specialists:

  • An ophthalmologist, a doctor who has special medical training in the care of eyes and vision
  • An ocularist, a provider who has special training in making and fitting prosthetic (artificial or man-made) eyes
  • An oculoplastic surgeon, a doctor who has special training in surgery for the eye and eye socket. The eye socket is made up of bones that surround the eye.

How are anophthalmia and microphthalmia treated?

Babies with anophthalmia and microphthalmia need early and regular care from eye specialists.

Treatment may include:

Devices that help a baby’s face grow and develop the right way. An ocularist can fit your baby with a conformer (a small plastic device) to help the bones of his eye socket and face grow the right way. Early treatment is important because a baby’s face grows quickly. Without treatment, your baby’s eye socket doesn’t grow properly with the rest of his face. Your baby has regular checkups with the ocularist to check the conformer. The ocularist fits your baby for larger conformers as he grows. When babies are older, they can be fitted for an artificial eye.

Surgery. Babies with severe anophthalmia or microphthalmia may need surgery to increase the size of the eye socket, create eyelids or lengthen the eyelids. Some babies need surgery to help a conformer or an artificial eye fit better. Surgery also can treat conditions that sometimes happen with microphthalmia, like cataracts.

Early intervention services (also called EIS). Babies with anophthalmia or microphthalmia who have vision problems or are blind may need special services to help them learn and develop. Getting early intervention services as soon as possible can help improve your baby’s development as she grows. These services can help children from birth through 3 years old learn important skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Babies and children with vision problems also may need orientation and mobility (also called O&M) training as part of early intervention services. O&M training helps children use their other senses to learn about their environment and learn how to move around safely. Visit the Early Childhood Technical Assistance Center to find your state’s contact information for early intervention services.

What causes anophthalmia and microphthalmia?

We don’t know all the causes of anophthalmia and microphthalmia. More research is needed to better understand them. Some causes may include:

Changes in genes or chromosomes. Some babies have birth defects because of changes in their genes (also called mutations) or chromosomes. Genes are part of your body’s cells that store instructions for the way your body grows and works. Genes are passed from parents to children. Chromosomes are the structures that hold genes.

Taking certain medicines during pregnancy. Taking these medicines during pregnancy can cause anophthalmia or microphthalmia: 

  • Isotretinoin. This medicine is used to treat severe acne called nodular acne. Nodular acne causes large, painful lumps in the skin. Sometimes isotretinoin is used to treat other skin conditions and certain types of cancer.
  • Thalidomide. This medicine is used to treat certain skin conditions, infections, certain types of cancer and complications from HIV (stands for human immunodeficiency virus). HIV is a virus that attacks the body’s immune system. HIV is the virus that causes AIDS (acquired immune deficiency syndrome). 

Isotretinoin and thalidomide are so dangerous for a baby that you have to agree to use two forms of effective birth control while taking either of these medicines so you don’t get pregnant.

Having certain infections during pregnancy. You can pass certain infections to your baby during pregnancy that may cause birth defects and other health problems in your baby. Having rubella during pregnancy may increase your baby’s risk for anophthalmia, microphthalmia and other health problems. Rubella (also called German measles) is an infection that can cause mild flu-like symptoms and a rash on the skin.

Being exposed to harmful substances. Some substances in your environment can be harmful to your baby during pregnancy. Your environment is all the things you come in contact with that affect your everyday life. Being exposed to chemicals, pesticides, radiation or other harmful substances during pregnancy may increase your baby’s risk for anophthalmia, microphthalmia and other health problems. Radiation is a kind of energy that travels as waves or particles in the air.

Can you lower your baby’s risk of having anophthalmia and microphthalmia?

Talk to your provider about things you can do to help reduce your baby’s risk for anophthalmia and microphthalmia: 

Get a preconception checkup. This is a medical checkup you get with your prenatal care provider before pregnancy to help make sure you’re healthy when you get pregnant. Go for this checkup before you start trying to get pregnant. 

Learn about your genes. If you, your partner, your children or someone in your families has a birth defect of the eye, you may want to see a genetic counselor. This is a person who is trained to help you understand about genes, birth defects and other medical conditions that run in families and how they can affect your health and your baby’s health. In many cases, anophthalmia or microphthalmia happen without any family history of the condition. This means no one in your family or your partner’s family has anophthalmia or microphthalmia.

Talk to your provider about medicines you take. Certain medicines you take may increase your baby’s risk of having a birth defect. If a medicine you take may be harmful to your baby, you may be able to change to one that’s safer. Here’s how to help reduce the risk of your baby having a birth defect like anophthalmia or microphthalmia:

  • Tell your health care provider about any prescription medicine, over-the-counter (OTC) medicine, supplement or herbal product you take before you get pregnant. If you’re using isotretinoin or thalidomide and you’re thinking about getting pregnant, you and your provider can work together to plan for pregnancy. If you get pregnant while taking one of these medicines, tell your provider right away.
  • Don’t start or stop taking any medicine before or during pregnancy without talking to your health care provider first. Stopping some medicines suddenly may cause severe problems for you and your baby. Your provider can help you stop taking a medicine safely.
  • Make sure any provider who prescribes you medicine knows you’re pregnant or trying to get pregnant. 

Ask your health care provider if your vaccinations are up to date before you try to get pregnant. Some vaccinations protect you from infections that can cause birth defects. For example, the MMR vaccine protects against measles, mumps and rubella. If you don’t have a record of your vaccinations, your provider can check your immunity (protection) for rubella with a blood test. If you need the MMR vaccination, wait at least 4 weeks after you get the shot before you try to get pregnant.

Avoid harmful substances in your environment. Talk to your boss if you work with substances like strong chemicals, pesticides, lead, radiation or chemotherapy medicines. Ask about making changes to your job or doing different work while you’re pregnant.

Get early and regular prenatal care. This is medical care you get during pregnancy. At each visit, your prenatal care provider checks on you and your growing baby. Call your provider and go for your first prenatal care checkup as soon as you know you’re pregnant. And go to all of your prenatal care checkups, even if you’re feeling fine.

More information

American Foundation for the Blind

Last reviewed: July, 2019