Blepharophimosis Syndrome

What is blepharophimosis syndrome?

Blepharophimosis syndrome is a genetic disorder that causes problems with how your eyelids develop. If you have this syndrome, you have narrow eye openings, droopy eyelids and folds of skin on the inner part of your eyes going from the bottom to the upper corner. The syndrome results from a mutation (change) in the FOXL2 gene. Blepharophimosis syndrome can also affect your ovaries if you have them.

Blepharophimosis syndrome is a shorter name for blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). You might also hear people call it BPES syndrome or small eye opening syndrome. The condition is congenital, which means you’re born with it.

You pronounce blepharophimosis as blef-uh-roe-fi-MOE-sis.

Types of blepharophimosis syndrome

There are two types of blepharophimosis syndrome or BPES: Type I and Type II.

A person with either type will have:

• Smaller than average eye openings (blepharophimosis).
• Eyelids that droop (ptosis).
• Eyes set widely apart (telecanthus).
• An upward fold of the inner lower eyelid (epicanthus inversus).

If you have BPES Type I, the condition may cause primary ovarian insufficiency (POI), also called premature ovarian insufficiency.

If you have BPES Type II, it won’t cause any other systemic issues (issues throughout your body).

How common is blepharophimosis syndrome?

The prevalence of blepharophimosis syndrome throughout the world is an estimated 1 in 50,000 births.

What are the signs and symptoms of blepharophimosis syndrome?

The signs and symptoms of blepharophimosis syndrome affect the look of your eyes. It may cause the following signs (also called clinical findings):

• Small eye openings.
• Drooping eyelids.
• Widely set eyes.
• Inner lower eyelids that fold up in the corner closest to your nose.

Other characteristics may include:

• Ectropion or eyelids that turn outward.
• Strabismus, often known as having crossed eyes.
• Amblyopia, often called lazy eye, because the droopy eyelid blocks your vision.
• Constricted ears (also called cup or lop ears), or ears with rims that are wrinkled or folded down.
• Low-set ears.
• Broad bridge of the nose.
• Nose and upper lip that are closer together than is typical.
• Primary ovarian insufficiency (if you have Type I).

What causes blepharophimosis syndrome?

A variation or mutation in a gene called FOXL2 causes blepharophimosis syndrome. The inheritance pattern is autosomal dominant. This means that only one parent needs to have the changed (mutated) gene to pass it on. However, some people do develop blepharophimosis syndrome without inheriting it. In this case, the term for the gene mutation is “fresh” or “new,” and you didn’t inherit it from an affected parent.

What are complications of blepharophimosis syndrome?

Blepharophimosis can affect your vision. You may be at higher risk for refractive errors. Babies and young children with severe ptosis can develop amblyopia or a lazy eye because the eyelids block their line of sight.

How is blepharophimosis syndrome diagnosed?

Your provider may think you have blepharophimosis syndrome from seeing the four clinical findings and doing an eye exam. An eye care specialist will do some or all of the following:

• A visual acuity test, which involves asking you to read letters off a chart. This test can tell your provider if you have refractive errors like nearsightedness or farsightedness.
• Tests for amblyopia (lazy eye) and strabismus (crossed eyes).
• Blood tests for reproductive hormone levels.
• Genetic tests.

How is blepharophimosis syndrome treated?

Treatment for blepharophimosis syndrome generally includes surgery when you’re a child. Between the ages of 3 to 5, surgery treats epicanthus inversus and telecanthus. After about a year, a surgeon will do a procedure to treat eyelid drooping. Surgeons can do all procedures at the same time but usually don’t.

If you have BPES Type I, which is when you have primary ovarian insufficiency, your provider will suggest hormone replacement, specifically estrogen supplements. However, these therapies are not a treatment for infertility.

How can I lower my risk of developing blepharophimosis syndrome?

There’s no real way to lower your risk of blepharophimosis syndrome. If the syndrome runs in your family, you may want to consider genetic counseling.

What can I expect if I have blepharophimosis syndrome?

If you have blepharophimosis syndrome, you’ll need to have regular eye exams. If you have Type I, you’ll want to discuss hormones and fertility with anendocrinologist or reproductive health specialist.

You can treat blepharophimosis syndrome but not cure it.

What questions should I ask my healthcare provider?

You may want to ask your healthcare provider:

• How often do I need to have eye exams?
• Do you recommend genetic counseling?
• Do you have suggestions for dealing with fertility issues?
• When would I need to go to an emergency room with this condition?

Blepharophimosis intellectual disability syndrome vs. blepharophimosis syndrome: what’s the difference?

People with blepharophimosis intellectual disability syndromes have drooping eyelids and eye openings that are smaller than usual. However, there’s no telecanthus or epicanthus inversus.

People with blepharophimosis intellectual disability syndromes do have slower mental development. These syndromes include Ohdo syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Scientists estimate that fewer than 1,000 people have blepharophimosis intellectual disability syndromes in the U.S.

People with blepharophimosis syndrome (BPES) don’t have intellectual disability.

A note from Cleveland Clinic

Blepharophimosis syndrome, also called BPES, is a rare condition that’s noticeable at birth. You and your healthcare team will be able to manage the condition. Surgeries to correct eyelid issues are usually part of the treatment plan.