Living with Congenital fibrosis of extraocular muscles
A condition present from birth that limits movement of the eye muscles, often with drooping eyelids and eyes that look in different directions.
Understanding Congenital fibrosis of extraocular muscles
People cannot move their eyes normally. Most have trouble looking upward, and side-to-side movement may also be limited. Most have droopy eyelids and may tilt their head to track objects. There are several forms. CFEOM1 and CFEOM2 involve only the eyes, while CFEOM3 can include other nervous system problems such as intellectual disability or delayed puberty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Limited eye movement, especially looking up
- Drooping upper eyelids (ptosis)
- Eyes looking in different directions (strabismus)
- Chin lifted or head turned to see
- Lazy eye (amblyopia)
- Small pupils
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. There are several forms, and it can be autosomal dominant or autosomal recessive.
Also known as: cfeom; congenital fibrosis of the extraocular muscles; congenital fibrosis syndrome; congenital ophthalmoplegia; feom; fibrosis of extraocular muscles, congenital
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital fibrosis of extraocular muscles.
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