People can be born with one or two small eyes (microphthalmia) or without one or both eyes (anophthalmia). These conditions may also occur with other eye conditions or medical problems elsewhere on the body. There is no cure.
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.
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.
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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:
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:
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:
Healthcare providers aren’t able to provide a new eye for people born with these conditions. However, there are treatments that include:
There’s no way to completely eliminate your risk of microphthalmia and anophthalmia, but there are ways to make pregnancy safer:
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.
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.
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:
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.
Last reviewed by a Cleveland Clinic medical professional on 09/07/2022.
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