Blepharophimosis Syndrome: Causes, Symptoms, and Treatment
Written by Sumiran Racherla, MD. Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Blepharophimosis Syndrome?
An ophthalmologist, a doctor who specializes in eye care and eye surgery, treats the eyelid problems. A geneticist, a doctor who studies inherited conditions, often helps too. Eyelid surgery is done by an oculoplastic surgeon, an eye doctor who operates on the eyelids. 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 Blepharophimosis syndrome?
Blepharophimosis syndrome, also called BPES, is a rare condition that mainly affects how the eyelids develop. It is there from birth. The full name is blepharophimosis, ptosis, and epicanthus inversus syndrome, after its three main signs.
People with BPES have a narrow eye opening, which doctors call blepharophimosis. They have droopy eyelids, called ptosis. They have an upward fold of skin near the inner corner of the lower eyelid, called epicanthus inversus. The inner corners of the eyes are also farther apart than normal, which is called telecanthus. Because of these eyelid problems, the eyelids cannot open fully, and vision may be limited.
Symptoms
The main signs are:
- Narrow eye openings.
- Droopy upper eyelids.
- An upward skin fold at the inner corner of the lower eyelid.
- A wider distance between the inner corners of the eyes.
Children with BPES have a higher chance of vision problems such as nearsightedness, which means far objects look blurry, or farsightedness. They may also have eyes that do not point in the same direction, called strabismus, or lazy eye, called amblyopia. With lazy eye, one eye does not develop normal vision. Some people have facial features such as a broad nasal bridge or low-set ears.
Causes and who gets it
Mutations in the FOXL2 gene cause BPES. This gene carries instructions for a protein that is active in the eyelids and ovaries. The condition is typically passed down in a dominant way, which means one changed copy of the gene is enough to cause it. A parent with BPES has a 50 percent chance of passing it to a child. Some cases come from new gene changes and happen in people with no family history.
There are two types. In type I, women also develop an early loss of ovarian function, called primary ovarian insufficiency. Their menstrual periods become less frequent and eventually stop before age 40, which can make it hard to get pregnant.
How doctors diagnose it
It is hard to predict which type of BPES a person will have. A partial loss of FOXL2 protein function generally causes type II. A complete loss of FOXL2 protein function often causes type I.
Treatment
Surgery is the treatment. It corrects the eyelid malformations so the eyes can open and the child can see well. The surgery tightens the muscle that lifts the eyelid or attaches the eyelid to other muscles that can help lift it. If a droopy eyelid blocks the pupil, the black dot at the center of the eye that lets light in, surgery may be done earlier. Surgery can improve vision as well as appearance. A child with lazy eye needs treatment for that too, such as an eye patch or special glasses. Eye doctors consider several factors when deciding how to treat ptosis in children, such as the child's age, whether one or both eyelids are involved, the eyelid height, the strength of the lifting muscle, and the eye movements.
When to see a doctor
A baby with very narrow eye openings or eyelids that droop over the pupil should see an eye doctor early, because a drooping eyelid that blocks vision can cause lasting lazy eye. Get care right away if a child's vision seems to worsen, or if an eye turns inward or outward after surgery. All children with ptosis should see their ophthalmologist regularly for eye exams. Women with BPES type I who want to become pregnant should ask about fertility early.
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. Either can spot the eyelid signs, arrange eye and genetics referrals, and follow up on vision and hormone care over the years.
Common questions
Is blepharophimosis syndrome present at birth?
Yes. Symptoms of this disease may start to appear during pregnancy. The condition is inherited or caused by a new gene change.
Can BPES be cured?
There is no cure for the gene change itself, but surgery can correct the eyelid malformations. This can improve vision and appearance. Glasses and other treatments help with the vision problems that come with it.
Will my child need surgery?
It depends on the child. An ophthalmologist may recommend surgery to treat ptosis in children. For more severe ptosis, the levator muscle may need to be shortened and reattached to the eyelid. An eye doctor may recommend surgery for children to improve vision.
What is primary ovarian insufficiency?
It is an early loss of ovarian function that happens in women with BPES type I. Periods become less frequent and eventually stop before age 40. It can make it hard to get pregnant. A fertility doctor can talk with you about options.
Sources
- MedlinePlus Genetics - Blepharophimosis, ptosis, and epicanthus inversus syndrome
- NIH Genetic and Rare Diseases Information Center - Blepharophimosis, ptosis, and epicanthus inversus syndrome
- American Academy of Ophthalmology - What Is Ptosis?
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.
