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.
Shady Grove Fertility - Rockville
Lauren Roth, M.D., is board certified in obstetrics and gynecology and reproductive endocrinology and infertility. She has published research on a range of fertility topics including polycystic ovary syndrome (PCOS) and the impact of weight on reproductive hormones. Dr. Roth sees patients in SGF’s Frederick, Rockville, and Silver Spring, Maryland offices. Lauren Roth, M.D. completed her undergraduate degree in Women’s Studies at the University of Maryland, College Park, where she graduated magna cum laude and inducted into Phi Beta Kappa. She earned her Medical Degree from the University of Maryland, Baltimore. She continued on to the University of Colorado, Denver where she completed her residency in Obstetrics and Gynecology and a 3 years fellowship in Reproductive Endocrinology and Infertility. She then served as an Assistant Professor at University of Colorado for 2 years before moving back to Maryland. Dr. Roth is board certified in both Obstetrics and Gynecology and Reproductive Endocrinology and Infertility. During her residency, Dr. Roth received several teaching awards and served as chief resident. During her fellowship and time as faculty at University of Colorado, she presented research at multiple national meetings and received three national research awards. She has published research on a range of fertility topics including polycystic ovary syndrome (PCOS) and the impact of weight on reproductive hormones. Dr. Roth joined the practice in 2015. Dr. Roth is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis Syndrome. Her top areas of expertise are Infertility, Asherman Syndrome, Sertoli Cell-Only Syndrome, and Tubal Disease.
Metropolitan Hospital
Haley Vos is a Physician Assistant in Wyoming, Michigan. Ms. Vos is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis Syndrome. Her top areas of expertise are Blepharophimosis Syndrome, Seasonal Affective Disorder (SAD), and Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Ms. Vos is currently accepting new patients.
University Of Miami
Victor Perez-Quinones is an Ophthalmologist in Miami, Florida. Dr. Perez-Quinones is rated as an Experienced provider by MediFind in the treatment of Blepharophimosis Syndrome. His top areas of expertise are Cloudy Cornea, Giant Papillary Conjunctivitis, Cicatricial Pemphigoid, Dry Eye Syndrome, and Corneal Transplant. Dr. Perez-Quinones is currently accepting new patients.
Published Date: October 01, 2013
Published By: National Institutes of Health