Disclaimer: I am NOT a physician, surgeon, ophthalmologist or medical professional. I have not had a medical professional edit this article. The descriptions of surgical procedures are my personal interpretation based on my readings and experience. The following article is NOT to be construed as medical advice, nor should it be taken as such.
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, otherwise known as BPES, is a rare genetic condition affecting the eyes. At this time, it is unknown how many people have this anomaly but one website guesstimates it at 1:50,000. In layman’s terms BPES means that the eyes are literally smaller than average, both in height and width, and the eyes have droopy lids causing a severely limited field of vision without surgery to correct them. They always look “sleepy”. People with this condition generally also have lower lids that curve in the wrong direction as well as flat noses (no bridge) and strongly arched brows (giving us a “surprised” look). There are other potential anomalies that I’ll touch on later based on which type of BPES one has.
In most cases of BPES, surgery to lift the eyelid will be required to open the field of vision. Technically it’s called brow suspension, frontalis sling surgery (Crawford double-triangle technique), which is the process of using a Teflon strip as a sling in conjunction with brow muscles to hold the upper eyelids up. Sometimes it involves autogenous fascia lata to elevate the upper eyelid, meaning they take tissue from the hip/thigh, and place it in the back of the eyelid and secure it to the slings to help hold the eyelid up. More than you will ever want to know can be found at the National Center for Biotechnology Information.
If you have BPES or just welcomed a new child with BPES, there are support groups out there where you can ask questions. And medical experts you can consult. Because BPES is so rare, there isn’t a lot of information readily available. Most of the websites will tell you the same things. BPES is a mutation of the FoxL2 gene. There are three types, Type I is characterized by premature ovarian failure (menopause and infertility) of affected females and Type II with transmission by both male and females (they can pass it on to their kids). The third type is truly an anomaly and happens without any genetic reasoning. As mentioned, droopy eyes and flat bridges are the typical characteristics, but in truly rare cases blindness, mental retardation, and cardiac problems are noted.
People with BPES may also experience dry eyes or issues with glare. I wear sunglasses as soon as I step out the door because the sun really bothers me. My husband has always had a problem with this and thought it was just me and my vanity. Until I started researching BPES and talking with others on Facebook. Overhead lighting and certain fluorescent bulbs bother me, too. Recently I had to walk out of a store because of their CFL’s…the lighting was so “off” that I couldn’t read anything. It was like having my eyes dilated. Talk about scary.
There are a few resources available. Because so little is known about this condition, my best information has come from members of Facebook groups. And that is how I met my current ophthalmologist, Dr. Bill Thornton. He has tipped oculoplastics on its head with the technique he uses to correct BPES. And he gets wonderful results.
For more technical information or to connect with others that deal with BPES please follow the links below. And you can also read my BPES story.
- BPES (Blepharophimosis Ptosis Epicanthus Inversus Syndrome)
- Blepharophimosis Epicanthus Inversus Syndrome (BPES)
On the web:
- BPES Family Support
- National Center for Biotechnology Information
- OMIM: An Online Catalog of Human Genes and Genetic Disorders
- The Long-Term Results of Frontalis Suspension Using Autogenous Fascia Lata in Children with Congenital Ptosis under 3 Years Old
If you have any questions about living with BPES, it’s affects, or just need a listening ear, please contact me through email or Facebook. I would love to share any current research or studies that you have found and those can be sent to me through either link as well.