Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

Reference work entry

In 1921, Komoto reported the first case, known today as blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), with the triad of wide set eyes, ectropion, excessive brow hair, and hypoplasia of the caruncle and the relatives with similar phenotypic features. Later that year, Dimitry described a family with above triad and traced the pedigree of “blepharophimosis syndrome,” apparently transmitted in an autosomal dominant manner for the first time. In 1971, Kohn added telecanthus to the triad of this syndrome.

Synonyms and Related Disorders

BPES with Duane retraction syndrome; BPES with/without ovarian failure

Genetics/Basic Defects

  1. 1.
    An autosomal dominant disorder
    1. a.
      No known affected family members in about one quarter of cases
      1. i.

        New mutation cases

         
      2. ii.

        Minimal expression in affected relatives

         
       
    2. b.

      A significant number of patients with no identifiable family history of BPES

       
     
  2. 2.
    BPES gene FOXL2
    1. a.

      Mapped to chromosome 3q22–23

       
    2. b.

      Recently mutation of FOXL2has been...

Keywords

Preimplantation Genetic Diagnosis Primordial Follicle Premature Ovarian Failure Palpebral Fissure Affected Female 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Allen, C. E., & Rubin, P. A. D. (2008). Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): Clinical manifestation and treatment. International Ophthalmology Clinics, 48, 15–23.PubMedCrossRefGoogle Scholar
  2. Amati, P., Chomel, J. C., Nivelon-Chevalier, A., et al. (1995). A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Human Genetics, 96, 213–215.PubMedCrossRefGoogle Scholar
  3. Beaconsfield, M., Walker, J., & Collin, J. (1991). Visual development in the blepharophimosis syndrome. British Journal of Ophthalmology, 75, 746–748.PubMedCrossRefGoogle Scholar
  4. Beckingsale, P. S., Sullivan, T. J., Wong, V. A., et al. (2003). Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clinical and Experimental Ophthalmology, 31, 138–142.PubMedCrossRefGoogle Scholar
  5. Beysen, D., Raes, J., Leroy, B. P., et al. (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. American Journal of Human Genetics, 77, 205–218.PubMedCrossRefGoogle Scholar
  6. Choi, K. H., Kyung, S., Oh, S. Y., et al. (2006). The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome. Journal of Pediatric Ophthalmology and Strabismus, 43, 285–288.PubMedGoogle Scholar
  7. Crisponi, L., Deiana, M., Loi, A., et al. (2001). The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genetics, 27, 159–166.PubMedCrossRefGoogle Scholar
  8. Cunniff, C., Curtis, M., Hassed, S. J., et al. (1998). Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities. American Journal of Medical Genetics, 75, 52–54.PubMedCrossRefGoogle Scholar
  9. Dawson, E. L., Hardy, T. G., Collins, J. R., et al. (2003). The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus, 11, 173–177.PubMedCrossRefGoogle Scholar
  10. De Baere, E. (2009) Blepharophimosis, ptosis and epicanthus inversus. GeneReviews. Updated November 12, 2009. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1441/
  11. De Baere, E., Beysen, D., Oley, C., et al. (2003). FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. American Journal of Human Genetics, 72, 478–487.PubMedCrossRefGoogle Scholar
  12. De Baere, E., Dixon, M. J., Small, K. W., et al. (2001). Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrate a genotype-phenotype correlation. Human Molecular Genetics, 10, 1591–1600.PubMedCrossRefGoogle Scholar
  13. Fokstuen, S., & Antonarakis, S. (2003). FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome; challenges for genetic counseling in female patients. American Journal of Medical Genetics. Part A, 117A, 143–146.PubMedCrossRefGoogle Scholar
  14. Guercio, Jr, & Martyn, L. J. (2007). Congenital malformations of the eye and orbit. Otolaryngologic Clinics of North America, 40, 113–140.CrossRefGoogle Scholar
  15. Hargrave, M., James, K., Nield, K., et al. (2000). Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. Human Genetics, 106, 432–439.PubMedCrossRefGoogle Scholar
  16. Kohn, R., & Romano, P. (1971). Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus – a syndrome with no name. American Journal of Ophthalmology, 72, 625–632.PubMedGoogle Scholar
  17. Krastinova, D., & Jasinski, M. (2003). Orbitoblepharophimosis syndrome: A 16 year perspective. Plastic and Reconstructive Surgery., 111, 987–999.PubMedCrossRefGoogle Scholar
  18. Lee, L., & Sullivan, T. (1995). Blepharophimosis syndrome: association with colobomatous microphthalmos. Australian and New Zealand Journal of Ophthalmology, 23, 145–147.PubMedCrossRefGoogle Scholar
  19. Mari, F., Giachino, D., Russo, L., et al. (2006). Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. Journal of AAPOS, 10, 279–280.PubMedCrossRefGoogle Scholar
  20. Moncla, A., Philip, N., & Mattei, J. F. (1995). Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. Journal of Medical Genetics, 32, 245–246.PubMedCrossRefGoogle Scholar
  21. Ohdo, S., Madokoro, H., Sonada, T., et al. (1986). Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. Journal of Medical Genetics, 23, 242–244.PubMedCrossRefGoogle Scholar
  22. Oley, C., & Baraitser, M. (1988). Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). Journal of Medical Genetics, 25, 47–51.PubMedCrossRefGoogle Scholar
  23. Stromland, K. (1987). Ocular involvement in the fetal alcohol syndrome. Survey of Ophthalmology, 31, 277–284.PubMedCrossRefGoogle Scholar
  24. Temple, I. K., & Baraitser, M. (1989). Pitfalls in counselling of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Journal of Medical Genetics, 26, 517–519.PubMedCrossRefGoogle Scholar
  25. Zlotogora, J., Sagi, M., & Cohen, T. (1983). The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. American Journal of Human Genetics, 35, 1020–1027.PubMedGoogle Scholar

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