Learn About Blepharophimosis Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.
Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is active in the eyelids and ovaries. The FOXL2 protein is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, the protein regulates the growth and development of certain ovarian cells and the breakdown of specific molecules.
The prevalence of BPES is unknown.
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Pediatric Medical Associates
We believe in going the extra mile to make sure you and your child are provided the highest quality care in an accessible, warm, friendly atmosphere. Every time. Dr. Gould is rated as an Advanced provider by MediFind in the treatment of Blepharophimosis Syndrome. His top areas of expertise are Obesity in Children, Blepharophimosis Syndrome, Asthma in Children, and Delayed Growth.
Stokes Regional Eye Centers Dba Sumter Eye Center – Florence
Mark Stokes is an Ophthalmologist in Florence, South Carolina. Dr. Stokes is rated as an Advanced provider by MediFind in the treatment of Blepharophimosis Syndrome. His top areas of expertise are Strabismus, Cataract, Blocked Tear Duct, and Entropion. Dr. Stokes is currently accepting new patients.
Eye Physicians And Surgeons, P.C.
Christina Weeks is an Ophthalmologist in Decatur, Georgia. Dr. Weeks has been practicing medicine for over 31 years and is rated as an Advanced provider by MediFind in the treatment of Blepharophimosis Syndrome. Her top areas of expertise are Strabismus, Esotropia, Amblyopia, and Anton Syndrome.
Published Date: October 01, 2013
Published By: National Institutes of Health