Microphthalmia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Microphthalmia?
An ophthalmologist, a doctor who specializes in vision and eye care, usually leads care for microphthalmia. Children also see an orbital and oculoplastic surgeon, who reshapes the area in and around the eye. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is microphthalmia?
Microphthalmia is an eye condition that a baby is born with. In this condition, one or both of the baby's eyes are small. It is a rare condition and can cause vision loss or blindness.
Microphthalmia is a birth defect in which the eyes do not develop fully. People with microphthalmia may or may not have significant vision loss.
Symptoms
The main sign is a baby born with one or both eyes that are unusually small. Microphthalmia can cause vision problems and blindness.
Children can also have small eye sockets, the bones around the eye. This can change the shape of the face.
People with microphthalmia may have other eye conditions, including:
- Coloboma, when normal tissue in or around the eye is missing.
- Cataract, a cloudy area in the lens of the eye.
- Microcornea, when the clear outer layer at the front of the eye is small and unusually curved.
Some have microphthalmia as part of a syndrome, a group of signs that affect many parts of the body.
Causes and who gets it
Most of the time, doctors do not know what caused microphthalmia. Known causes include:
- Changes in genes that help the eye form early in development.
- Changes in the number or structure of chromosomes. Microphthalmia is seen in chromosome disorders such as trisomy 13 and trisomy 18.
- Some medicines taken during pregnancy, including isotretinoin, a medicine for severe acne, and thalidomide.
- Infections during pregnancy, such as rubella, toxoplasmosis, and cytomegalovirus, which are listed as environmental risk factors.
- Contact with harmful things in the environment, such as X-rays, chemicals, drugs, pesticides, radiation, and viruses.
Microphthalmia can be inherited. Many people who have it have no family history of the disorder.
How doctors diagnose it
Doctors can diagnose microphthalmia during pregnancy or after the baby is born.
During pregnancy, doctors can check for it with these tests:
- Ultrasound, a type of imaging to look at structures in the body.
- CT scan, a type of X-ray.
- Genetic testing, which uses blood and other tissue to find genetic disorders.
After the baby is born, the doctor can diagnose microphthalmia with an exam. Experts say genetic testing should also be offered after birth.
An MRI scan can show the leftover eye tissue and the optic nerve, which connects the eye to the brain.
Treatment
No treatment can create a new eye or restore vision. But early treatment can help babies and children grow and develop. Care may include:
- Conformers, special devices that help the eye socket grow. Children may also wear a prosthetic eye to help the socket grow.
- Protective eyewear. A child with vision in only 1 eye needs prescription eyeglasses or safety goggles to protect that eye from injury.
- A patch on the other eye. This may help strengthen vision in the smaller eye.
- Surgery to make the eye socket bigger, fill it out, or help devices fit better. Surgery can also treat other eye problems, like cataracts.
- Early intervention and therapy, special services to help children grow and develop.
Doctors often start socket expansion within weeks of birth. This helps limit changes in the shape of the face. After socket expansion, children still need follow-up to watch for angle closure glaucoma, an eye pressure problem, and retinal detachment in some children.
Children with microphthalmia will need to see a team of doctors. An ocularist, someone trained to make and fit prosthetic eyes, is also part of the care team.
When to see a doctor
A baby born with small eyes needs to see an ophthalmologist and the other doctors on the care team. If your child sees with only 1 eye, ask the child's doctor about the best type of eye protection.
If you are pregnant or planning a pregnancy, talk to your doctor about ways to lower your baby's risk. Steps include:
- Getting a checkup before you are pregnant.
- Talking to your doctor about medicines you take.
- Visiting a genetic counselor, someone who helps you understand your genes.
Call 911 or go to the emergency room if your child has a sudden injury to the eye, a sudden change in vision, or severe pain that keeps getting worse.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can listen to your concerns, help you set up visits with an eye doctor and other specialists, and keep track of your child's overall health between visits.
Common questions
Is microphthalmia the same as anophthalmia?
No. Microphthalmia means one or both of a baby's eyes are small. Anophthalmia means a baby is born without one or both eyes.
Can a child with microphthalmia see?
It depends. People with microphthalmia may or may not have significant vision loss. Other eye problems can make vision worse.
Can microphthalmia be treated?
Care can help, but no treatment can create a new eye or restore vision. Early treatment can help babies and children grow and develop.
Can microphthalmia be found before birth?
Yes. During pregnancy, doctors can check for it with ultrasound, a CT scan, or genetic testing.
Sources
- National Eye Institute - Anophthalmia and Microphthalmia
- MedlinePlus Genetics - Anophthalmia/Microphthalmia
- EyeWiki (American Academy of Ophthalmology) - Microphthalmos
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
