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

• DOI: 10.15605/jafes.032.01.13
• Publication Date: 2017-05-31T04:36:18Z
• Authors: Abhinav Kumar Gupta; Deepak Chand Gupta; Saqib Ahmad Khan; Syed Mohd Razi
• Keywords: Blepharophimosis; Premature ovarian failure

Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations.In some cases, it associated premature ovarian failure (POF).BPES of two types, type I and II.Type POF along eyelid malformations, while Type 2 has only malformations.Here, we report family BPES, in whom sisters presented secondary amenorrhea.On examination, they have blepharophimosis, ptosis, telecanthus.Investigations revealed hypergonadotropic hypogonadism.Their father also similar manifestations.Diagnosis BPES was made both were started on hormone replacement therapy.To make timely diagnosis every patient should specifically be checked for manifestations.