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Genetic and Rare Diseases Information Center (GARD)

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Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1


Other Names for this Disease
  • Blepharophimosis syndrome type 1
  • Blepharophimosis, ptosis, epicanthus inversus with ovarian failure
  • BPES type 1
  • BPES with premature ovarian failure
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Overview



What is blepharophimosis, ptosis, and epicanthus inversus syndrome type 1?

How might Blepharophimosis syndrome type 1 be treated?


What is blepharophimosis, ptosis, and epicanthus inversus syndrome type 1?

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.[1]
Last updated: 6/6/2011

How might Blepharophimosis syndrome type 1 be treated?

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 Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural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. [2] 

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[3]
Last updated: 6/6/2011

References
  1. 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.
  2. 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.
  3. 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.