Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Banu, Sabiha; Aziz, Ayesha; Kirmani, Salman; Nadeem, Sarah

doi:10.1016/j.jecr.2020.100068

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2022

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“…BPES is an atypical genetic disorder with an approximate incidence of one in 50,000 births. The cosmetic disfigurement associated with BPES can lead to social and emotional dilemmas that can impact the patient's daily lifestyle [ 6 ]. Up to 75% of individuals with BPES have detectable FOXL2 mutation, which leads to haploinsufficiency.…”

Section: Discussionmentioning

confidence: 99%

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases

Alkhairy¹,

Saeed²,

Saeed³

2022

Cureus

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A 14-year-old male presented to the outpatient department of ophthalmology with complaints of visual impairment. The patient was assessed with a detailed history and physical examination. Marked amblyopia was observed on inspection, and his best-corrected vision was 6/36 in both eyes with no further improvement. Both the anterior and posterior segments of the eyes were normal. A diagnosis of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected. Surgery was initiated in two stages, with the first stage utilizing Mustarde's double Z-plasty to correct the epicanthus inversus and telecanthus. The second stage was done three months later, involving a tarsofrontalis sling with prolene sutures to correct ptosis. The success of this operation speaks to the efficacy of a two-stage procedure for remedying a syndrome as complex as BPES.

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Section: Discussionmentioning

confidence: 99%