Blepharophimosis-epicanthus inversus-ptosis syndrome

More than 130 mutations (changes) in the FOXL2 gene have been found to cause BPES. It has been reported that mutations that lead to a significantly shortened FOXL2 protein often cause BPES type I (characterized by eyelid malformations and premature ovarian failure (POF)), while mutations that result in an extra long FOXL2 protein may cause BPES type II (which involves only eyelid malformations). However, in a study published in 2003 in the American Journal of Human Genetics, the authors discussed how their study was the first to demonstrate intra- and interfamilial phenotypic variability (i.e. both BPES types caused by the same mutation). They discuss how assigning an affected family a diagnosis of either BPES type I or II is not always possible because of this. The article also discusses a previous report of menstrual abnormalities and reduced female fertility in two families with BPES type II, suggesting overlap between both BPES types, as well as a report of a family with BPES type I in which the first generations of affected females are infertile while three affected young women in the youngest generation appear to have normal pelvic ultrasound and hormone levels. They do caution that in this family, the early age of the affected women may preclude an accurate prediction of whether they will have POF, since the onset of POF usually occurs at a later age.

Approximately 12 percent of people with BPES do not have an identified FOXL2 gene mutation; the cause of the condition in these people is unknown, and therefore there is no information on whether there may be variation within families for these affected individuals.

Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids. People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited. Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern.

Yes, additional information and supportive resources for adults with Blepharophimosis syndrome type 1 are available from the following organizations:

Ameriface
PO Box 751112
Las Vegas, NV 89136
Toll-free: 1- 888-486-1209
Telephone: 702-769-9264
E-mail: info@ameriface.org
Web site: http://www.ameriface.org

AboutFace International
123 Edward Street Suite 1003
Toronto ON M5G 1E2
Canada
Toll-free: 1-800-665-FACE (800-665-3223)
Telephone: 416-597-2229
Fax: 416-597-8494
E-mail: info@aboutfaceinternational.org
Web site: www.aboutfaceinternational.org

Blepharophimosis, Ptosis, Epicanthus Inversus Family Network
SE 820 Meadow Vale Drive
Pullman WA 99163
Telephone: 509-332-6628
E-mail: Lschauble@gocougs.wsu.edu
Web site www.bpes.org.uk

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga TN 37401
Toll-Free: 1- 800-332-2373
E-mail: faces@faces-cranio.org
Web site: www.faces-cranio.org

International Premature Ovarian Failure Association
PO Box 23643
Alexandria, VA 22304
Telephone: 703-913-4787
Web site: www.ipofa.org

Resolve: The National Infertility Association: Premature Ovarian Failure
1760 Old Meadow Rd. Suite 500
McLean, VA 22102
Telephone: 703-556-7172
Fax: 703-506-3266
E-mail: info@resolve.org
Web site: www.resolve.org

Lighthouse International
111 E 59th Street
New York, NY 10022-1202
Toll-free: 1-800-829-0500
Telephone: 212-821-9200
TTY: 212-821-9713
Fax: 212-821-9707
E-mail: info@lighthouse.org
Web site: www.lighthouse.org

Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist.

Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance.

For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here.

Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.