What are Anophthalmia and Microphthalmia
Anophthalmia and microphthalmia are rare eye conditions that develop during pregnancy. Anophthalmia is missing one eye or both eyes at birth.
Microphthalmia is having an abnormally small size for one eye or both eyes at birth. Microphthalmia causes blindness or limited vision.
What are the causes?
These conditions happen when one eye or both eyes fail to develop before birth. The reason they fail to develop is not always known. A possible reason is a genetic defect.
What increases the risk?
These conditions are more likely to develop if there is a family history of these conditions. They are also more likely to develop in children who were exposed in the womb to:
- Certain medicines.
- X-rays.
- Chemicals.
- Drugs.
- Pesticides.
- Toxins.
- Radiation.
- Viruses.
What are the signs or symptoms?
Symptoms of these conditions include:
- A small eye socket.
- A small, tight eyelid.
- An absent or small eyeball.
How is this diagnosed?
Before birth, these conditions can be diagnosed with an ultrasound exam. After birth, they can be diagnosed with a physical exam. Tests may be done to rule out other birth defects. Tests may include:
- A CT scan.
- A MRI.
- A hearing test.
- Genetic testing.
How is this treated?
There is no cure for blindness, and there is no way to replace a missing eye. The goal of early treatment is to help the bones that surround the eye to grow normally. Treatment may involve:
- Fitting the eye with a plastic insert that goes in the eye socket (conformer). The conformer helps the bones around the eye to grow normally. Treatment with a conformer is a long-term process. The conformer will need to be replaced often as your child grows. After your child’s facial growth is complete, the conformer can be replaced with a prosthetic eye.
- Plastic surgery on your child’s eyelids. This may be done to improve the appearance of the eye or to allow placement of the conformer.
- Wearing a patch to strengthen partial vision in a small eye.
You will need to work with a doctor who is trained to care for diseases of the eye (ophthalmologist), a doctor who specializes in prosthetic eyes (ocularist), and a team of health care providers.
Follow these instructions at home:
- Work with your child’s team of health care providers.
- Keep all follow-up visits as told by your child’s health care providers. This is important.
Contact a health care provider if:
- There seems to be a change in your child’s vision.
- Your child’s conformer comes out and you cannot get it back in place.
- Your child is rubbing his or her eye and seems to be uncomfortable or irritable.
- There is fluid coming from your child’s eye.
- There is redness around your child’s eye.
