Microphthalmia and Anophthalmia

What are the definitions of microphthalmia and anophthalmia?

Microphthalmia and anophthalmia are both congenital conditions that affect the eyes. A congenital condition is one that you have when you’re born. Conditions that are a result of problems with fetal development are sometimes called birth defects. You may hear some people say that anophthalmia and microphthalmia are examples of “eye birth defects.”

Microphthalmia means that one eye or both eyes don’t develop fully so they are small and disorganized. Bilateral microphthalmia is the term for when the condition affects both eyes. Unilateral microphthalmia is the term for when the condition affects only one eye.

Other names for microphthalmia include small eye syndrome and microphthalmos.

Anophthalmia means that one or both eyes don’t develop at all so they are missing. In bilateral anophthalmia, both eyes are missing. In unilateral anophthalmia, one eye is missing.

How common are microphthalmia and anophthalmia?

According to some estimates, these conditions (anophthalmia and microphthalmia) affect about 1 in 5,200 to 1 in 10,000 infants born each year in the U.S.

What are the symptoms of microphthalmia and anophthalmia?

Your provider will be able to tell if your baby has microphthalmia or anophthalmia by looking carefully during a physical examination and doing an eye exam.

Symptoms include poor vision or even complete vision loss. These eye conditions can happen along with other eye conditions and medical issues.

Some of the other eye issues include:

• Cataracts: A cataract forms on the lens of the eye and makes it cloudy, causing poor vision and subdued colors.
• Coloboma: A coloboma means that tissue is missing in the eye. It mostly happens in the iris, or the colored part of the eye. If you have a coloboma, your pupil (the black part of the eye) may have an irregular shape because the iris has a notch or groove in it.
• Microcornea: A microcornea is a cornea that’s very small. If you have it, your cornea doesn’t reach 10 mm in diameter even when you’re an adult.
• Detached retina: This condition is serious and can cause blindness. The retina, a layer of tissue at the back of your eye, gets separated from its supporting tissue. The retina is responsible for sending signals to the brain so we can see.
• Ptosis or pseudoptosis: Ptosis refers to a drooping eyelid and involves muscles and nerves. Pseudoptosis may look like ptosis because the eyelid droops. However, the cause isn’t nerves and muscles, but an undeveloped ocular globe (eyeball).

What causes microphthalmia and anophthalmia?

Researchers don’t know for sure what causes anophthalmia or what causes microphthalmia. Some babies are born with these conditions due to genetic changes. Researchers think that the changes in genes and chromosomes may combine with environmental factors to result in conditions present at birth.

There are other things that may be factors in these eye conditions, including:

• Taking medications that include isotretinoin (Accutane®) or thalidomide during a pregnancy. Isotretinoin treats acne. Thalidomide treats cancer and some skin conditions.
• Being exposed to X-rays or other forms of radiation during pregnancy.
• Being exposed to chemicals, like drugs or pesticides, during pregnancy.
• Being exposed to infections like rubella and toxoplasmosis during pregnancy.
• Maternal vitamin A deficiency.

How do providers diagnose these conditions?

In a newborn child, your provider can diagnose anophthalmia and microphthalmia through an examination. However, it’s also possible to diagnose these conditions during pregnancy.

Tests that can diagnose microphthalmia and anophthalmia before birth include:

• Ultrasound. Ultrasonography uses high-intensity sound waves to generate images. Fetal ultrasound can’t always detect microphthalmia.
• Fetal MRI. MRI stands for magnetic resonance imaging. It’s a specialized imaging test that may be helpful in evaluating for fetal congenital anomalies and associated complications.
• Genetic testing, like the quad marker screening test: The quad screen is a blood test done between the 15th and 20th weeks of pregnancy that can provide information on genetic disorders in the fetus.

What medications or treatments are used for microphthalmia and anophthalmia?

Healthcare providers aren’t able to provide a new eye for people born with these conditions. However, there are treatments that include:

• Conformers: These are devices that fit into the eye socket to help your eye socket and face develop more typically. You’ll need bigger devices as your face grows.
• Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. They also help with socket and face development and can help with cosmetic concerns.
• Surgery: You might need surgery to treat cataracts, coloboma or to help with the conformer fittings.
• Services to help a child and their family deal with vision loss or blindness. Some of these specialists include teachers for the visually impaired, low vision therapists and low vision specialists. These early intervention services will help babies learn to walk, talk and interact with others. Additional services can help families work together to improve life for their child.
• Glasses or contacts. Correcting refractive error is necessary to treat any sign of amblyopia, also called lazy eye. Protective eyewear is important if you only have one eye with vision. Depending on which parts of the eye are involved in microphthalmia, you may still be able to have the ability to see clearly, especially with corrective lenses.

How can I reduce my risk?

There’s no way to completely eliminate your risk of microphthalmia and anophthalmia, but there are ways to make pregnancy safer:

• See a healthcare provider before you get pregnant and work together so you can be as healthy as possible before and during your pregnancy. This talk should include details on what types of vaccinations you might need to be up-to-date before you get pregnant.
• Make sure you get prenatal care (care before birth) early and consistently. Always go to your appointments, even if you feel fine.
• Talk to your provider about the medications and over-the-counter products you take to make sure that they are compatible with a healthy pregnancy. This includes prescription products and supplements. You must talk to your provider if you take isotretinoin and thalidomide.
• Your provider may suggest genetic testing before you get pregnant after discussing your medical history and your family history.
• Avoid harmful chemicals.

What can I expect if I have microphthalmia or anophthalmia?

There’s no cure for microphthalmia or anophthalmia. It’s a question of managing these conditions and any other conditions that might occur with them.

When should I see my healthcare provider?

It’s important to have a healthcare team if you or your child has microphthalmia or anophthalmia. In addition to a pediatrician or internist, someone with either of these conditions will probably need an ophthalmologist, an ocularist and an oculoplastic surgeon.

An ophthalmologist is a medical doctor who is trained in diagnosing and treating eye conditions and vision conditions.

An ocularist is a provider who can make prosthetic devices like artificial eyes and conformers. They can also do the fitting for these devices.

An oculoplastic surgeon is a surgeon who has special training with the eyes, the eye sockets and the bones that make them up.

It’s a good idea to have all these members of your healthcare team (or your child’s team), along with experts who can help with any other areas of need.

What other conditions may be associated with microphthalmia and anophthalmia?

Microphthalmia and anophthalmia may happen along with other medical conditions that occur at birth, including issues with hands and feet malformation (like polydactyly), face and mouth malformation (like cleft lip and palate) and intellectual challenges.

Anophthalmia and microphthalmia may also be part of congenital syndromes, including:

• Aicardi syndrome: This rare disorder may cause some body parts to be missing at birth. People who have it may have lifelong health issues like seizures and developmental delays.
• CHARGE syndrome: This is a rare disorder that affects many parts of the body, including the eyes and the heart.
• SOX2 anophthalmia syndrome: In addition to having no eyes or small eyes, people with this syndrome may have seizures and problems with the brain.
• Lenz microphthalmia syndrome: In addition to small eyes, people with this syndrome may have uncontrolled eye movements, learning issues and problems with the skeletal and urinary systems.

A note from Cleveland Clinic

You may feel concerned if you’re pregnant and you find out that your child may have microphthalmia or anophthalmia. Talking to your healthcare team may help you to develop strategies to have in place to help you manage these conditions. There are early intervention services to help your child learn and support groups to help your family and your child succeed.