Living with Blepharophimosis, ptosis, and epicanthus inversus syndrome
A genetic condition that mainly affects eyelid development, with narrow, droopy eyelids.
Understanding Blepharophimosis, ptosis, and epicanthus inversus syndrome
People have narrow eye openings, droopy eyelids, an upward skin fold on the lower eyelid, and wider-set inner eye corners. The eyelids may not open fully and vision may be limited. There is a higher chance of nearsightedness, farsightedness, crossed eyes, and lazy eye. Type I also causes early loss of ovarian function (primary ovarian insufficiency), which may affect fertility.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow eyelid opening (blepharophimosis)
- Drooping upper eyelids (ptosis)
- Skin fold at the inner eye corner (epicanthus)
- Nearsightedness (myopia)
- Flat nasal bridge
- Blocked tear ducts
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FOXL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FOXL2 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: blepharophimosis epicanthus inversus ptosis syndrome; blepharophimosis types 1 and 2; blepharophimosis-epicanthus inversus-ptosis syndrome; blepharophimosis-ptosis-epicanthus inversus syndrome; blepharophimosis, epicanthus inversus, and ptosis, type 1; blepharophimosis, epicanthus inversus, and ptosis, type 2
Patient organizations
- Resolve: The National Infertility AssociationBlepharophimosis, ptosis, and epicanthus inversus syndrome · United States
- Children's Craniofacial AssociationBlepharophimosis, ptosis, and epicanthus inversus syndrome · United States
- FACES: The National Craniofacial AssociationBlepharophimosis, ptosis, and epicanthus inversus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Blepharophimosis, ptosis, and epicanthus inversus syndrome.
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