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What Is Blepharophimosis (BPES)?

Blepharophimosis, also known as blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), is a rare genetic condition that affects the development of the eyelids. It causes the eyes to appear smaller or more narrow due to short horizontal eyelid openings. People with BPES also have droopy eyelids (ptosis) and an inward fold of the skin near the inner corner of the eyes (epicanthus inversus). The condition can occur alone or with other developmental issues.

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What Is Blepharophimosis (BPES)?

Blepharophimosis, also known as blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), is a rare genetic condition that affects the development of the eyelids. It causes the eyes to appear smaller or more narrow due to short horizontal eyelid openings. People with BPES also have droopy eyelids (ptosis) and an inward fold of the skin near the inner corner of the eyes (epicanthus inversus). The condition can occur alone or with other developmental issues.

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What Causes Blepharophimosis (BPES)?

BPES is caused by mutations in the FOXL2 gene, which plays a role in eyelid and ovarian development. These genetic changes affect how tissues around the eyes form before birth. The condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene is enough to cause symptoms. There are two main types: Type I, which is associated with premature ovarian failure in females, and Type II, which affects only the eyelids.

What Are the Symptoms of Blepharophimosis (BPES)?

The main symptoms are short and narrow eyelid openings, droopy upper eyelids, and an inward fold near the inner eye corner. These features often cause the eyes to look farther apart than usual. Some individuals may also have reduced ability to lift their eyelids, leading to an upward chin posture when trying to see clearly. Vision problems such as amblyopia (lazy eye) can develop if the drooping eyelids block normal sight.

How Is Blepharophimosis (BPES) Diagnosed?

Diagnosis usually includes:

  • A detailed eye examination to assess eyelid shape, position, and function
  • Genetic testing to confirm FOXL2 gene mutations
  • Evaluation for possible vision problems such as astigmatism or amblyopia
  • Family history review to identify inherited cases

How Is Blepharophimosis (BPES) Treated?

Treatment typically involves reconstructive eyelid surgery performed in stages during early childhood. The first procedure corrects the epicanthal folds and eyelid spacing, followed by surgery to lift the drooping eyelids. Vision therapy or glasses may be needed to address related visual issues. Genetic counseling is recommended for affected families to discuss inheritance and reproductive planning.

When to Schedule Evaluation

If a child has narrow eyelid openings or noticeable eyelid position differences, an exam can help confirm BPES. Early assessment supports planning for treatment and monitoring vision development. Some cases may require surgery for functional improvement. Family history may also be relevant and worth discussing. Regular follow-up supports healthy visual growth.

Frequently Asked Questions

What is BPES?

BPES is a genetic condition that affects eyelid development and makes the eye openings look shorter and narrower. It often includes droopy upper lids and a skin fold near the inner corners. These features can block normal vision in children. Early evaluation helps protect visual development.

What causes it?

It is caused by mutations in the FOXL2 gene, which affects tissue development before birth. It is often inherited in an autosomal dominant pattern, meaning one changed gene can cause the condition. There are different forms, and one type is linked to ovarian issues in females. Genetic counseling helps families understand what to expect.

How is it treated?

Treatment is usually staged eyelid surgery in childhood to improve lid position and eye opening. Timing depends on whether the droopy lids block vision and raise amblyopia risk. Glasses or vision therapy can be added if a child develops refractive error or lazy eye. Follow-up visits track both eyelid function and vision.

When should a child be evaluated?

Evaluation is worth scheduling if a child has very narrow lid openings, strong lid droop, or a persistent chin-up posture to see. Early checks help catch amblyopia risk before it becomes harder to treat. Family history can also guide testing and planning. Ongoing monitoring supports steady visual growth.

References

1. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. GeneReviews, NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1441/. Accessed January 16, 2026.

2. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES). MedlinePlus Genetics. https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-epicanthus-inversus-syndrome/. Accessed January 16, 2026.

3. FOXL2 Gene. MedlinePlus Genetics. https://medlineplus.gov/genetics/gene/foxl2/. Accessed January 16, 2026.

4. Blepharophimosis Syndrome. StatPearls, NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/ (search: "Blepharophimosis syndrome StatPearls"). Accessed January 16, 2026.

5. BPES Overview. Orphanet. https://www.orpha.net/ (search: "blepharophimosis ptosis epicanthus inversus syndrome"). Accessed January 16, 2026.

6. FOXL2 Mutations in BPES Review Articles. PubMed. https://pubmed.ncbi.nlm.nih.gov/ (search: "FOXL2 mutations BPES review"). Accessed January 16, 2026.