Blepharophimosis Ptosis Epicanthus  Syndrome: A Case Report

H Alen; U Akang; M Saba; M Bature; A Ahmed

Authors

H Alen Federal Medical Centre, Asaba
U Akang National Eye Centre, Kaduna
M Saba National Eye Centre, Kaduna
M Bature National Eye Centre, Kaduna
A Ahmed National Eye Centre, Kaduna

Abstract

Blepharophimosis ptosis epicanthus syndrome (BPES) is a rare disorder associated with maldevelopment of oculofacial structures.¹ It is characterized by shortened horizontal palpebral fissure, ptosis, epicanthus inversus and telecanthus^2,3,4. It is usually bilateral and may be asymmetrical5 . Other features include ectropion, low nasal bridge, microphthalmos, divergent strabismus and amblyopia. Also, cardiac defects, mild mental retardation and psychological challenge from facial appearance may occur.^2,4 In females, premature ovarian failure may be present.^1,2,6 BPES is usually inherited in autosomal dominant fashion, but may be sporadic.^5,7,8 It is due to mutation of the FOXL2 gene, located in 3q23, causing maldevelopment of eyelids and ovaries.^5,9 Different phenotypes, BPES types 1 and 2 occur.1,10 Staged surgery is advocated, usually at age 3-5 years.³

Views | Downloads: 32 / 18

References

Bhattacharjee K, Bhattacharjee H, Kuri G, Shah Z, Deori N. Single stage surgery for Blepharophimosis syndrome. Indian J Ophthalmol. 2012 May-Jun; 60(3): 195-201

Cai T, Tagle D, Xia X, Yu P, He X, Li L, Xia J Anovel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. J Med Genet 1997; 34: 772-776

Beaconsfield M, Walker J, Collin J. Visual development in the blepharophimosis syndrome. British Journal of Ophthalmology, 1991; 75: 746-748

Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Journal of Medical Genetics 1988; 25: 47-51

Mandal S, Mandal A, Fleming J, Goecks T, Meador A, Fowler B. Surgical outcome of epicanthus and telecanthus correction by double Z-plasty and trans-nasal fixation with prolene suture in Blepharophimosis syndrome. J Clin Diagn Res. 2017 Mar; 11(3): NC05-NC08

Temple I. Baraitser M. Pitfalls in counseling of the BPES. Journal of Medical Genetics 1989; 26:517-519

De Baere E, Dixon M, Small K, Jabs E, Leroy B, Devriendt K, et al. Spectrum of FOXL gene mutations in BPES families demonstrates a genotype-phenotype correlation. Hum Mol Genet. 2001;15: 1591-600

Merrild U, Berggreen S, Hansen L, Mikkelsen M, Henningsen K. Partial deletion of the short arm of chromosome 3. Eur J Pediatr. 1981; 136(2):211

Setty G, Khan A, Hussain N. A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. J PediatrNeurosci 2012 Sep-Dec;7(3):238

Zlotogora J, Sagi M, Cohen T. The Blepharophimosis, ptosis, epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 1983; 35: 1020-1027

Wu S, Ma L, Tsai Y, KuoJ.One stage correction for Blepharophimosis syndrome. Eye (2008)22, 380-388

Elliot D, Wallace A.Ptosis with Blepharophimosis and epicanthus inversus. Br J Plast Surg 1986; 39:244-248