About Blepharophimosis-ptosis-epicanthus inversus syndrome
What is Blepharophimosis-ptosis-epicanthus inversus syndrome?
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic disorder characterized by abnormal development of the eyelids. It is characterized by blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), and epicanthus inversus (inward folding of the inner corner of the eyelids). Other features may include a broad nasal bridge, a flat midface, and a short philtrum. BPES is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant manner.
What are the symptoms of Blepharophimosis-ptosis-epicanthus inversus syndrome?
The main symptoms of Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) include:
-Blepharophimosis (narrowing of the eyelids)
-Ptosis (drooping of the upper eyelids)
-Epicanthus inversus (inward turning of the inner corner of the eye)
-Strabismus (crossed eyes)
-Upper eyelid coloboma (notch in the upper eyelid)
-Downslanting palpebral fissures (downward slanting of the eyelids)
-Hypertelorism (widely spaced eyes)
-Upper eyelid eversion (outward turning of the upper eyelid)
-Lower eyelid entropion (inward turning of the
What are the causes of Blepharophimosis-ptosis-epicanthus inversus syndrome?
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic disorder caused by mutations in the FOXL2 gene. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.
What are the treatments for Blepharophimosis-ptosis-epicanthus inversus syndrome?
1. Eyelid Surgery: This is the most common treatment for Blepharophimosis-ptosis-epicanthus inversus syndrome. Surgery can help to correct the drooping eyelids and the epicanthus inversus.
2. Botox Injections: Botox injections can be used to help relax the muscles around the eyes, which can help to improve the appearance of the eyelids.
3. Eyeglasses: Eyeglasses can be used to help improve vision in cases where the eyelids are drooping too much and blocking the vision.
4. Eye Drops: Eye drops can be used to help reduce the inflammation and irritation associated with the condition.
5. Artificial Tears: Artificial tears can be used to help lubricate the eyes and reduce the dryness associated with the condition.
What are the risk factors for Blepharophimosis-ptosis-epicanthus inversus syndrome?
1. Genetic mutation: Blepharophimosis-ptosis-epicanthus inversus syndrome is caused by a mutation in the FOXL2 gene.
2. Family history: Individuals with a family history of the condition are at an increased risk of developing the syndrome.
3. Gender: Blepharophimosis-ptosis-epicanthus inversus syndrome is more common in females than males.
4. Age: The condition is more likely to occur in children and young adults.
Is there a cure/medications for Blepharophimosis-ptosis-epicanthus inversus syndrome?
At this time, there is no cure for Blepharophimosis-ptosis-epicanthus inversus syndrome. However, there are treatments available to help manage the symptoms. These include eyelid surgery to correct the drooping eyelids, corrective lenses to improve vision, and Botox injections to help improve the appearance of the eyes. Additionally, medications such as corticosteroids and antibiotics may be prescribed to help reduce inflammation and infection.