BPES: A Complex Eyelid Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES)
BPES is a rare inherited eyelid syndrome characterized by a complex array of abnormalities. These include:
- Blepharophimosis (narrowing of the eyelid openings)
- Ptosis (drooping of the upper eyelids)
- Epicanthus inversus (skin fold covering the inner corner of the eye)
Causes and Inheritance
BPES is caused by mutations in the FOXL2 gene, which plays a vital role in eyelid development. The syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is needed to cause the condition.
Clinical Manifestations
In addition to the characteristic eyelid abnormalities, BPES can also cause:
- Dry eyes - Corneal irritation - Astigmatism - Cataracts - Glaucoma
Management
Treatment of BPES focuses on improving vision and relieving symptoms. Options may include:
- Eyelid surgery to widen the eyelid openings and correct ptosis
- Lubricating eye drops
- Glasses or contact lenses to correct vision problems
- Surgery to address cataracts or glaucoma
Conclusion
BPES is a rare but complex eyelid syndrome that requires a comprehensive approach to management to ensure optimal vision and comfort for affected individuals. Advances in surgical techniques and other therapies continue to improve the quality of life for those with BPES.
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