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.