Peters Plus Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Peters Plus Syndrome?
A primary care doctor, such as a pediatrician, usually helps coordinate care. Because the eyes are often affected, an ophthalmologist is usually involved. Other specialists may include a cardiologist for the heart, a nephrologist for the kidneys, and a developmental specialist for learning delays. A geneticist often helps confirm the diagnosis.
What it is
Peters Plus Syndrome is a rare genetic condition that people are born with. The name comes from an eye problem called Peters anomaly, in which the cornea, the front clear window of the eye, does not form properly. The "plus" refers to other features that often come with it, such as a small head, short height, and learning delays.
Symptoms
The most common sign is an eye problem present from birth. The cornea may be cloudy, meaning it looks hazy instead of clear. Many children grow slowly and take longer to learn to walk and talk. Some have heart defects, extra fingers or toes, or kidney problems.
Causes and who gets it
Peters Plus Syndrome is caused by changes in a gene called B3GALTL. It is passed down in a recessive way, meaning a child must get one changed copy from each parent. It is very rare, with only a small number of cases reported worldwide.
How doctors diagnose it
Doctors look at the eye findings and other physical features, often soon after birth. An eye exam can show the cornea problems that suggest Peters anomaly. Genetic testing can confirm the diagnosis by finding the changed gene.
Treatment
There is no cure, but treatment can help with many of the problems. Eye surgery may improve or protect vision, and glasses or vision aids can help. Children often benefit from growth monitoring, hormone treatment for short height, heart or kidney care, and speech, physical, and occupational therapy.
When to see a doctor
See a doctor if a baby has cloudy corneas or other eye problems, since early treatment can protect vision. Regular checkups are important to watch growth, development, and any heart or kidney issues.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee. A concierge doctor usually charges more and often works alongside insurance. Either one can spend extra time coordinating care for a child with a rare condition, managing routine checkups, growth monitoring, and referrals to an ophthalmologist, a geneticist, and other specialists.
Common questions
Is Peters Plus Syndrome inherited from the parents?
Yes, but in most cases the parents are healthy carriers. Each parent has one changed copy of the gene but no symptoms.
Can children with Peters Plus Syndrome see normally?
Vision varies a lot from child to child. Some children have serious vision loss from the eye problems, while others see better after treatment.
How common is Peters Plus Syndrome?
It is very rare. Only a small number of cases have been reported worldwide, so exact numbers are hard to know.
Can it be detected before birth?
In some cases, yes. If a family is known to carry the gene change, genetic testing during pregnancy can check for it.
Sources
- NIH Genetic and Rare Diseases Information Center - Peters plus syndrome
- MedlinePlus Genetics - Peters plus syndrome
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.
