Blephrophimosis ptosis and epicanthus inversus syndrome

Introduction: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a developmental disorder for which diagnosis is based on 4 major features: Blepharophimosis, Ptosis, Epicanthus inversus and telecanthus). This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern. Case report: A 12 year old girl presented ptosis with strabismus in eye OPD. The patient had bilateral ptosis. On basis of ophthalmic examination diagnosis of BEPS made. There is a high incidence of bilateral strabismus than the general population which can be detected in our patient.Occasional ocular findings reported in some patients include microphthalmos, anophthalmos, microcornea, hypermetropia, and nystagmus which are not detected in our patient. Conclusion: Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic surgeon, endocrinologist, reproductive endocrinologist and gynecologist.