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Genetics Home Reference: your guide to understanding genetic conditions
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Blepharophimosis, ptosis, and epicanthus inversus syndrome

(often shortened to BPES)
Reviewed November 2008

What is BPES?

Blepharophimosis, ptosis, and epicanthus inversus syndrome (also called BPES) is a condition that mainly affects the 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 malformations, the eyelids cannot open fully, and vision may be limited.

People with BPES are at an increased risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia). They may also have eyes that do not point in the same direction (strabismus) and lazy eye (amblyopia) affecting one or both eyes.

There are two types of BPES. Type I consists of the four major features of blepharophimosis, ptosis, epicanthus inversus, and telecanthus, plus premature ovarian failure. Premature ovarian failure causes a woman's menstrual periods to become less frequent and eventually stop before age 40. Premature ovarian failure can lead to difficultly conceiving a child (subfertiliy) or a complete inability to conceive (infertility). Type II consists of only the eyelid malformations.

How common is BPES?

The prevalence of BPES is unknown.

What genes are related to BPES?

Mutations in the FOXL2 gene cause BPES types I and II. The FOXL2 gene provides instructions for making a protein that is involved in the development of the eyelids and the ovaries before birth. The FOXL2 protein is also active in the ovaries throughout adult life.

Some FOXL2 gene mutations impair development of the eyelids only, while others also affect development of the ovaries. Mutations that affect the functioning of the FOXL2 protein in the eyelids and ovaries result in BPES type I. Mutations that affect the functioning of FOXL2 protein only in the eyelids result in BPES type II.

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.

Related Gene(s)

Changes in this gene are associated with blepharophimosis, ptosis, and epicanthus inversus syndrome.

  • FOXL2

How do people inherit BPES?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of BPES?

These resources address the diagnosis or management of BPES and may include treatment providers.

  • Gene Review: Blepharophimosis, Ptosis, and Epicanthus Inversus (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bpes)
  • Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220663)
  • MedlinePlus Encyclopedia: Amblyopia (http://www.nlm.nih.gov/medlineplus/ency/article/001014.htm)
  • MedlinePlus Encyclopedia: Epicanthal folds (http://www.nlm.nih.gov/medlineplus/ency/article/003030.htm)
  • MedlinePlus Encyclopedia: Ptosis (http://www.nlm.nih.gov/medlineplus/ency/article/001018.htm)

You might also find information on the diagnosis or management of BPES in Educational resources (http://www.ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about BPES?

You may find the following resources about BPES helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Amblyopia (http://www.nlm.nih.gov/medlineplus/ency/article/001014.htm)
    • Encyclopedia: Epicanthal folds (http://www.nlm.nih.gov/medlineplus/ency/article/003030.htm)
    • Encyclopedia: Ptosis (http://www.nlm.nih.gov/medlineplus/ency/article/001018.htm)
    • Health Topic: Eyelid Disorders (http://www.nlm.nih.gov/medlineplus/eyeliddisorders.html)
    • Health Topic: Premature Ovarian Failure (http://www.nlm.nih.gov/medlineplus/prematureovarianfailure.html)

  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases

    • Genetic and Rare Diseases Information Center: Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (http://rarediseases.info.nih.gov/gard/10213/resources/resources/1)
    • Genetic and Rare Diseases Information Center: Blepharophimosis syndrome type 1 (http://rarediseases.info.nih.gov/gard/23/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Child Health and Human Development: Primary Ovarian Insufficiency (http://www.nichd.nih.gov/health/topics/POI/Pages/default.aspx)

  • Educational resources - Information pages

    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=126)
    • Washington Univeristy, St. Louis: Neuromuscular Disease Center (http://neuromuscular.wustl.edu/syncm.html)

  • Patient support - For patients and families

    • CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
    • Family Village (http://www.familyvillage.wisc.edu/Lib_blep.htm)
    • Lighthouse International (http://www.lighthouse.org/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/944/viewAbstract)
    • RESOLVE: The National Infertility Association: Premature Ovarian Failure (http://www.resolve.org/diagnosis-management/infertility-diagnosis/premature-ovarian-failure-1.html)
    • University of Kansas Medical Center Resource List (http://www.kumc.edu/gec/support/blepharo.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bpes)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Blepharophimosis, ptosis, and epicanthus inversus (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220663)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((blepharophimosis%20ptosis%20epicanthus%20inversus%5BTIAB%5D)%20OR%20(blepharophimosis%20syndrome%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/110100)

What other names do people use for BPES?

  • blepharophimosis, ptosis, and epicanthus inversus
  • blepharophimosis, ptosis, and epicanthus inversus type I
  • blepharophimosis, ptosis, and epicanthus inversus type II
  • blepharophimosis syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about BPES?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding BPES?

amblyopia ; autosomal ; autosomal dominant ; blepharophimosis ; cell ; gene ; infertility ; lazy eye ; mutation ; myopia ; nearsightedness ; ovarian ; prevalence ; protein ; ptosis ; strabismus ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008 Spring;48(2):15-23. doi: 10.1097/IIO.0b013e3181694eee. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18427257?dopt=Abstract)
  • Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. (http://www.ncbi.nlm.nih.gov/pubmed/18642388?dopt=Abstract)
  • Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009 Feb;30(2):158-69. doi: 10.1002/humu.20807. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18726931?dopt=Abstract)
  • Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16. (http://www.ncbi.nlm.nih.gov/pubmed/15962237?dopt=Abstract)
  • Choi KH, Kyung S, Oh SY. The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome. J Pediatr Ophthalmol Strabismus. 2006 Sep-Oct;43(5):285-8. (http://www.ncbi.nlm.nih.gov/pubmed/17022162?dopt=Abstract)
  • Dawson EL, Hardy TG, Collin JR, Lee JP. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus. 2003 Sep;11(3):173-7. (http://www.ncbi.nlm.nih.gov/pubmed/14710475?dopt=Abstract)
  • Taylor A, Strike PW, Tyers AG. Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit. Clin Experiment Ophthalmol. 2007 Apr;35(3):262-9. (http://www.ncbi.nlm.nih.gov/pubmed/17430514?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2008
Published: May 13, 2013