Blepharophimosis, ptosis, epicanthus inversus

A genetic condition affecting the eyes and face

Blepharophimosis, ptosis, epicanthus inversus syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Narrowed eye openings, drooping eyelids, upward fold of the lower eyelid
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical correction
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic disorder characterized by specific malformations of the eyelids and surrounding facial structures. The condition is present at birth and affects both males and females equally.

Signs and Symptoms

BPES is primarily identified by the following features:

• Blepharophimosis: A condition where the horizontal aperture of the eyelids is abnormally narrow.
• 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 lead to functional and cosmetic issues, including impaired vision and difficulty with eye closure.

Genetics

BPES is most commonly caused by mutations in the FOXL2 gene, located on chromosome 3. This gene is crucial for the normal development of the eyelids and ovaries. BPES can be inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

There are two types of BPES:

• Type I: Characterized by eyelid malformations and premature ovarian insufficiency, leading to infertility in females.
• Type II: Involves only the eyelid malformations without affecting fertility.

Diagnosis

Diagnosis of BPES is primarily clinical, based on the characteristic facial features. Genetic testing can confirm the diagnosis by identifying mutations in the FOXL2 gene. Early diagnosis is important for planning appropriate management and interventions.

Management

Management of BPES typically involves surgical correction of the eyelid abnormalities to improve vision and appearance. Surgery is often performed in stages, beginning in early childhood. Regular follow-up with an ophthalmologist is essential to monitor vision and eye health.

Prognosis

With appropriate surgical intervention, individuals with BPES can lead normal lives with improved vision and appearance. However, females with Type I BPES may face challenges related to fertility due to premature ovarian insufficiency.

Also see

• Ptosis (eyelid)
• Epicanthic fold
• Genetic disorder
• Ophthalmology

External

• Age-Related Macular Degeneration

• Amblyopia (Lazy Eye)

• Anophthalmia and Microphthalmia

• Astigmatism

B

• Behçet's Disease* Bietti's Crystalline Dystrophy

• Blepharitis* Blepharospasm

C

• Cataracts

• Coloboma

• Color Blindness

• Corneal Conditions

D

• Diabetic Retinopathy

• Dry Eye

F

• Floaters

G

• Glaucoma

I

• Idiopathic Intracranial Hypertension

L

• Low Vision

M

• Macular Edema

• Macular Hole

• Macular Pucker

P

• Pink Eye

R

• Rare Diseases

• Refractive Errors

• Retinal Detachment

• Retinitis Pigmentosa

• Retinoblastoma

• Retinopathy of Prematurity

S

• Stargardt Disease

U

• Usher Syndrome

• Uveitis

V

• Vitreous Detachment