Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
Other Names for this Disease
- Blepharophimosis - epicanthus inversus - ptosis
- Blepharophimosis syndrome type 1
- Blepharophimosis types 1 and 2
- Blepharophimosis, ptosis, epicanthus inversus with ovarian failure
- BPES type 1
Your QuestionAre there any support groups or networking opportunities for adults with blepharophimosis type 1? Is there any information on procedures that can correct the appearance of persons with this condition?
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Questions on this page
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 Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural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. 
123 Edward Street Suite 1003
Toronto ON M5G 1E2
Toll-free: 1-800-665-FACE (800-665-3223)
Web site: www.aboutfaceinternational.org
International Premature Ovarian Failure Association
PO Box 23643
Alexandria, VA 22304
Web site: www.ipofa.org
Resolve: The National Infertility Association: Premature Ovarian Failure
1760 Old Meadow Rd. Suite 500
McLean, VA 22102
Web site: www.resolve.org
111 E 59th Street
New York, NY 10022-1202
Web site: www.lighthouse.org
- Blepharophimosis, ptosis, and epicanthus inversus syndrome. Genetics Home Reference. November, 2008; http://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome. Accessed 9/16/2010.
- Elfride De Baere, MD, PhD. Blepharophimosis, Ptosis, and Epicanthus Inversus. GeneReviews. November 12, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bpes. Accessed 9/16/2010.
- Premature Ovarian Failure (POF) Fact Sheet. International Premature Ovarian Failure Association. October, 2009; http://www.runmyclub.com/IPOFA/ClientFiles/English%20Fact%20Sheet.pdf. Accessed 9/17/2010.