Title: Blepharophimosis Syndrome- A Rare Case

Authors: Dr Preeti Rawat, Dr Rekha Soni, Dr Shruti Choudhary

 DOI: https://dx.doi.org/10.18535/jmscr/v8i5.31

Abstract

 

Background: BPES is complex of eyelid malformation.

It is very rare and dominantly inherited condition approximately 6% of children with congenital ptosis present with this syndrome associated with primary amenorrhea in some family lines.

Case Description: 17 year male present with chief complaint of diminution of vision with small eyes since birth associated with watering, on ptosis workup he has absent lid crease, good levator function with good bells phenomena 

Prognosis: Excellent eyelid surgery results have been published typically requiring multiple staged surgeries.

References

  1. Vignes A. Epicanthus hereditaire. Rev Gen Ophthalmol (Paris) 1889;8:438–439
  2. Beaconsfield M, Walker JW, Collin JR. Visual development in the blepharophimo-sis syndrome. Br J Ophthalmol 1991;75: 746–748.
  3. Verdin H, De Baere E. Blepharophimosis, Ptosis, and Epicanthus Inversus. 2004 Jul 8 [Updated 2015 Feb 5]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
  4. Tyers, A. G. (2011). "The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)." Orbit 30(5): 199-201.
  5. Batista F Vaiman D, Dausset J, Fellous M Veitia R. 2007. Potential targets of FOXL2 a transcription factor involved in craniofacial and follicular development identified by transcriptomics. Proc Natl Acad Sci USA 104:3330-3335.

Corresponding Author

Dr Rekha Soni

PG resident MGM medical College and MY hospital Indore