Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family



blepharophimosis ptosis epicanthus inversus syndrome (BPES), secondary amenorrhea, primary ovarian failure


Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations.

Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy.

To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.


Download data is not yet available.

Author Biographies

Abhinav Kumar Gupta, Lala Lajpat Rai Memorial Medical College, Meerut

Department of Endocrinology, Senior Resident

Deepak Chand Gupta, Lala Lajpat Rai Memorial Medical College, Meerut

Senior Resident

Saqib Ahmad Khan, Lala Lajpat Rai Memorial Medical College, Meerut

Senior Resident

Syed Mohd Razi, Sri Sai Hospital, Moradabad

Consultant Endocrinologist


Chawla B, Bhadange Y, Dada R, Kumar M, Sharma S, et al. Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. Invest Ophthalmol Vis Sci. 2013;54(4):2985-91. PMID: 23513057.

Kamath M, Dabke S, Kamath G, Nayak R, et al. Sporadic blepharophimosis syndrome: A case report. IJSR;5.

Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet. 1983;35(5):1020-7. PMID: 6613996. PMCID: PMC1685801.

De Baere E, Copelli S, Caburet S, Laissue P, et al. Premature ovarian failure and forkhead transcription factor FOXL2: Blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatric Endocrinol Rev. 2005;2(4):653-60. PMID: 16208278.

Patil SB, Kale SM, Math M, Khare N, Sumeet J. Anthropometry of the eyelid and palpebral fissure in an Indian population. Aesthet Surg J. 2011;31(3):290-4. PMID: 21385738.

Verdin H, De Baere E. Blepharophimosis, ptosis, and epicanthus inversus. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2017. Bookshelf ID: NBK1441. PMID: 20301614.

Corrêa FJ, Tavares AB, Pereira RW, Abrão MS. A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome. Fertil Steril. 2010;93(3):3-6.

Townes PL, Muechler EK. Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea: A dominant trait. Arch Ophthalmol. 1979;97(9):1664-6. PMID: 475637.

Fraser IS, Shearman RP, Smith A, Russell P. An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril. 1988;50(5):747-51. PMID: 3141218.

Panidis D, Rousso D, Vavilis D, Skiadopoulos S, Kalogeropoulos A. Familial blepharophimosis with ovarian dysfunction. Hum Reprod. 1994;9(11):2034-7. PMID: 7868670.

Amati P, Gasparini P, Zlotogora J, Zelante L, et al. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Gen. 1996;58(5):1089-92. PMID: 8651270. PMCID: PMC1914611.

Crisponi L, Deiana M, Loi A, Chiappe F, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Gen. 2001;27(2):159-66. PMID: 11175783. 10.1038/84781.



How to Cite

Gupta, A. K., Gupta, D. C., Khan, S. A., & Razi, S. M. (2017). Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family. Journal of the ASEAN Federation of Endocrine Societies, 32(1), 68. Retrieved from



Case Reports

Most read articles by the same author(s)