About 1 or 2 in 10,000 kids are born with some version of microphthalmia or anophthalmia. Although these conditions are very rare, they can be managed. Your child can grow up happy and healthy with low vision or vision in only one eye. Caring for your child with microphthalmia or anophthalmia as soon as possible will allow you and your child to adjust and work through differences in a positive, healthy way.
Typically microphthalmia or anophthalmia are evident at birth. Though you may know earlier through ultrasounds, genetic testing, or CT scans the mother may have had done while pregnant.
This article will give some basic information about both microphthalmia and anophthalmia, and then show you how these conditions can be treated using modern medical technology.
What are the symptoms of microphthalmia and anophthalmia?
Microphthalmia is a condition where one or both eyeballs develop incorrectly and are abnormally small. There’s quite a range here. Some kids with microphthalmia cannot see at all, whereas others can see fairly well out of one or both eyes.
You can identify microphthalmia because the eye socket looks smaller, and sometimes it appears pinched or permanently closed.
People with microphthalmia often also have other conditions, including coloboma, which means certain tissues and structures within the eye are missing. This may look like gaps within the iris — the colored portion of the eye. It can also be visible in the retina, the blood vessel behind the retina, and in the optic nerves.
In about 40% of cases, microphthalmia is classified as a syndrome. This means that the same defect that led to this also affected other organs and body tissues. A child with microphthalmia syndrome may likely have several other challenges in addition to their vision.
Anophthalmia is, in some ways, just an extreme version of microphthalmia, because in this case, there is no eyeball at all. This too can take place in one or both eyes.
Can you see with microphthalmia or anophthalmia?
When only one eye is affected, then yes, you can see with the other eye. This would be considered mild microphthalmia. If both eyes are affected by microphthalmia, it may still be possible to see out of one or both eyes. It all depends on how much the development of the eye was affected.
There is a range, from functional blindness, to perception of light, to blurry vision, to complete vision.
If both eyes are affected by anophthalmia, this would mean neither eye socket contains an eyeball, therefore there would be no vision.
What causes microphthalmia and anophthalmia?
Can microphthalmia be genetic? Surprisingly, it’s extremely rare for a child to develop either condition as a result of their parents’ genetic traits. This does happen on occasion, but most kids who have either of these conditions developed them from an unknown cause.
Here’s what is known:
Both microphthalmia and anophthalmia are considered genetic disorders, meaning that something goes wrong in the genetic development of the eye during pregnancy. This is known because ultrasounds and CT scans have shown no defects in first trimester babies who later were found to have one of these conditions.
This means the condition developed later in the pregnancy. Sometimes, something reduces the ocular blood supply, and that’s why it often affects surrounding eye structures and tissues in addition to the eyeball and leads to some facial deformities.
The good news is, in many cases this appearance can be corrected while the child is still very young. We’ll talk about this more in a moment.
Other causes of microphthalmia and anophthalmia have been confirmed to be environmental, meaning they can be prevented or minimized if the pregnant mother takes certain precautions.
The two most well-known of these are the medicines isotretinoin and thalidomide, both of which treat various skin conditions, as well as other things. Pregnant women and any woman open to or wishing to become pregnant should absolutely avoid these medicines.
Other external factors that can cause microphthalmia and anophthalmia in developing fetuses include x-rays, radiation, certain viruses, chemicals, drugs, and pesticides.
Can microphthalmia and anophthalmia be cured?
Yes and no. In terms of lost sight or impaired vision, there is no way to restore that vision or cause the smaller eyeball to grow back to a normal size. This is a birth defect, meaning normal development must happen in the womb.
When a typical baby is born, its eyes are already about 70% of their adult size. But their face is much smaller, about 40% of the adult size.
With either of these two conditions, the eyeballs are either non-existent or much smaller than normal, and this affects the shape of the rest of the face. The effect will often increase as the child grows. This is why the face of a child with microphthalmia or anophthalmia may develop differently than those without.
However, as you’re about to see, if you intervene early in a child’s life, you can restore and preserve the shape of the child’s face even by age five. In a bit, we’ll share a link to some incredible microphthalmia pictures showing treatment before and after in several children.
The key to treating microphthalmia and anophthalmia – start early
If a newborn is found to have microphthalmia or anophthalmia, the first task is to confirm if the condition is present in one or both eyes.
Sometimes it can be subtle. Coloboma, cataracts, and other conditions that can relate to microphthalmia or anophthalmia are not quite as apparent at first, and neither are some other structural abnormalities or small cysts likely to be seen at first glance. You can detect all these with an ultrasound of the eye.
Next, you need to find out how well the infant can see. This can be done with pediatric vision tests.
Then, you may end up working with up to three specialists: An ophthalmologist, an oculoplastic surgeon, and an ocularist such as those at Northwest Eye Design.
With their help, your child may be fitted with a custom conformer, which is a clear plastic structure that helps the eye socket grow and develop as it would if a normally-sized eyeball and other structures were present. These acrylic shapes are inserted in the eye socket to function as placeholders while the baby or young child grows. At different stages, a larger conformer replaces the smaller conformer to expand the eye socket. By age five, the face is about 90% of the adult size, so at this point you can create a lifelike prosthetic eye with the help of your ocularist. This prosthesis will match the natural eye.
Look at the astounding pictures in the Nature article. You have to scroll down a bit to reach them.
The microphthalmia pictures shown include photos taken before treatment began, during development, and at five years of age for a few kids. You can see how the eye socket looked at first, as well as the shape of the child’s face.
After the child starts wearing the prosthesis, semiannual checkups are recommended for continued care of the prosthesis and for the ocularist to observe and monitor the fit of the prosthesis. A prosthetic eye for a child should be replaced within 2-4 years due to anatomic growth. Polishing the prosthesis by an ocularist keeps the eye socket healthy, clean, and comfortable. An ophthalmologist should continue to monitor cases of microphthalmia for various conditions that can develop over time such as retinal detachment and angle closure glaucoma.
Want some more one-on-one information? Contact our ocularist today.