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

Authors

Keywords:

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

Abstract

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.

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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

References

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Published

2017-05-09

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 https://asean-endocrinejournal.org/index.php/JAFES/article/view/390

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Section

Case Reports

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