Blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic disorder primarily affecting the development of the eyelids and, in some cases, ovarian function. It is characterized by four major eyelid features present at birth: blepharophimosis (narrowing of the horizontal eye opening), ptosis (drooping of the upper eyelids), epicanthus inversus (a skin fold arising from the lower eyelid and running inward and upward), and telecanthus (increased distance between the inner corners of the eyes). These features can impair vision and may lead to amblyopia (lazy eye) if not addressed. BPES is classified into two types: Type I is associated with premature ovarian insufficiency (POI), which can cause reduced fertility or infertility in affected females, while Type II involves only the eyelid malformations without ovarian dysfunction. Males with either type are not affected in terms of fertility. BPES is caused by mutations in the FOXL2 gene located on chromosome 3q22.3, which encodes a transcription factor critical for eyelid and ovarian follicle development. The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the altered gene is sufficient to cause the disorder. Approximately half of cases arise from new (de novo) mutations with no prior family history. Diagnosis is typically clinical, based on the characteristic facial features observed at birth or in early infancy, and can be confirmed through molecular genetic testing of the FOXL2 gene. Treatment of BPES is primarily surgical and is aimed at correcting the eyelid abnormalities to improve both function and appearance. Surgical correction is usually performed in stages during early childhood, often involving medial canthoplasty to address the telecanthus and epicanthus inversus, followed by ptosis repair. Early intervention is important to prevent amblyopia. For females with Type I BPES, monitoring of ovarian function is recommended, and fertility counseling should be offered. Hormone replacement therapy may be necessary for those who develop premature ovarian insufficiency. Regular ophthalmologic follow-up is essential throughout life to manage any associated visual complications such as refractive errors or strabismus.

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