Blepharophimosis

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Blepharophimosis
Synonyms BPES
Pronounce N/A
Specialty N/A
Symptoms Narrowing of the palpebral fissure, ptosis, epicanthus inversus, telecanthus
Complications Amblyopia, strabismus
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation, often in the FOXL2 gene
Risks Family history of the condition
Diagnosis Clinical examination, genetic testing
Differential diagnosis Ptosis, epicanthus, other craniofacial syndromes
Prevention N/A
Treatment Surgical correction, ptosis surgery, strabismus surgery
Medication N/A
Prognosis Generally good with treatment
Frequency Rare
Deaths N/A


A genetic condition affecting the eyelids




Blepharophimosis is a congenital condition characterized by the abnormal development of the eyelids. It is part of a syndrome known as Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES), which affects the eyes and sometimes other parts of the body.

Signs and Symptoms[edit | edit source]

Blepharophimosis is primarily identified by the following features:

  • Blepharophimosis: A horizontal narrowing of the palpebral fissures, resulting in reduced width of the eye openings.
  • Ptosis: Drooping of the upper eyelids, which can impair vision if severe.
  • Epicanthus inversus: An upward fold of the skin of the lower eyelid near the inner corner of the eye.
  • Telecanthus: An increased distance between the inner corners of the eyes.

These features can vary in severity among individuals with the condition.

Genetics[edit | edit source]

Blepharophimosis is often inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. The condition is most commonly associated with mutations in the FOXL2 gene, which plays a crucial role in the development of the eyelids and other facial structures.

Diagnosis[edit | edit source]

Diagnosis of blepharophimosis is typically made based on clinical examination and the characteristic features of the eyelids. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene.

Treatment[edit | edit source]

Management of blepharophimosis often involves surgical intervention to correct the eyelid abnormalities. Surgery may include:

  • Ptosis repair: To elevate the drooping eyelids and improve vision.
  • Canthoplasty: To correct the telecanthus and improve the appearance of the eyes.

Surgical treatment is usually tailored to the individual needs of the patient and may require multiple procedures over time.

Prognosis[edit | edit source]

With appropriate surgical treatment, individuals with blepharophimosis can achieve improved eyelid function and appearance. However, ongoing monitoring and care may be necessary to address any additional complications or related conditions.

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