Publication Cover
Orbit
The International Journal on Orbital Disorders, Oculoplastic and Lacrimal Surgery
Volume 30, 2011 - Issue 5
687
Views
9
CrossRef citations to date
0
Altmetric
Original Article

The Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES)

, FRCS, FRCSEd, and FRCOphth
Pages 199-201 | Received 07 Dec 2010, Accepted 08 Dec 2010, Published online: 29 Sep 2011

REFERENCES

  • Amati P, et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 1995;96:213–215
  • Ammon FAv. Klinische darstellung der krankheiten undbildungsfehler des menschlichen auges, der augenglides und der thranewerkzeuge. G Reimers, Berlin; 1841.
  • Beaconsfield M, Walker JW, Collin JR. Visual development in the blepharophimosis syndrome. Br J Ophthalmol 199;75:746–748.
  • Beard C. Ptosis. 2nd ed. CV Mosby Company, St Louis, MO; 1976.
  • Beckingsale PS, et al. Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clin Exper Ophthalmol 2003;31:138–142.
  • Beysen D, et al., 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;77:205–218
  • Crisponi L, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001;27:159–166.
  • De Baere E, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet 2003;72:478–487.
  • de Ru MH, et al. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature. Am J Med Genet A 2005;137:81–87.
  • Dimitry TJ. Hereditary ptosis. Am J Ophthalmol 1921;4:655–658.
  • Duke-Elder S. System of Ophthalmology. 1964;3(2):855. London: Henry Kimpton.
  • Elliot D, Wallace AF. Ptosis with blepharophimosis and epicanthus inversus. Br J Plast Surg 1986;39:244–248.
  • Fukushima Y, et al. Blepharophymosis (sic) syndrome and de novo balanced autosomal translocation [46,XY,t(3:4)(q23;p15.2)]:possible localisation of blepharophymosis syndrome to 3q23. Am J Hum Genet 1990;47:A29.
  • Gijsbers AC, et al. Identification of copy number variants associated with BPES-like phenotypes. Hum Genet 2008;124:489–498
  • Hughes WL. Surgical treatment of congenital palpebral phimosis. Arch Ophthalmol, 1955;54:586.
  • Kohn R. Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. J Pediatr Ophthalmol Strabismus 1983;20:98–100.
  • Johnson CC. Epicanthus and epiblepharon. Arch Ophthalmol 1978;96:1030–1033.
  • Johnson CC. Operations for epicanthus and blepharophimosis; An evaluation and a method for shortening the medial canthal ligament. Am J Ophthalmol 1956;41:71–79.
  • Johnson CC. Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis. Arch Ophthalmol 1964;71:510–516.
  • Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus—A syndrome with no name. Am J Ophthalmol 1971;72:625–632.
  • Komoto J. Ptosisoperation. Klin Monbl Augenheilkd 1922;68:110.
  • Moraine C, et al. [Familial blepharophimosis and female sterility: Pleiotropism or linked genes?]. J Genet Hum 1976;24 Suppl:125–132.
  • Mustarde JC. Epicanthus and telecanthus. Br J Plast Surg 1963;16:346–356.
  • Mustarde JC. Repair and Reconstruction in the Orbital Region. 3rd ed. 1991: Churchill Livingstone, Edinburgh; 467–468.
  • Small KW, et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 1995;4:443–448.
  • Taylor A, Strike PW, Tyers AG. Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit. Clin Exper Ophthalmol 2007;35:262–269.
  • Tyers AG, Collin JRO. Colour Atlas of Ophthalmic Plastic Surgery. 3rd ed. 2008: Butterworth Heinemann Elsevier.
  • Vignes A. Epicanthus hereditaire. Rev Gen Ophthalmol (Paris) 1889;8:438–439
  • Wu SY, et al., One-stage correction for blepharophimosis syndrome. Eye (Lond) 2008;22:380–388.
  • Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983;35:1020–1027.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.