Living with Duane retraction syndrome with congenital deafness
A rare condition that combines an eye movement problem (Duane retraction syndrome) with hearing loss present from birth.
Understanding Duane retraction syndrome with congenital deafness
People with this condition have Duane retraction syndrome, which limits eye movement outward or inward, makes the eyeball pull back, and narrows the eyelid opening. They also have hearing loss from birth in one or both ears. Hearing loss is on the same side as the eye problem. It is present from the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Limited eye movement outward or inward
- Eyeball pulls back as the eye moves inward
- Narrow eyelid opening
- Hearing loss from birth in one or both ears
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, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAFB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 the MAFB gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: drs with deafness; drs with hearing loss; duane retraction syndrome with congenital hearing loss; durs with deafness; durs with hearing loss
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 Duane retraction syndrome with congenital deafness.
Explore research for Duane retraction syndrome with congenital deafness
Explore actively recruiting Duane retraction syndrome with congenital deafness studies with HealthSpark.
Find actively recruiting studies for Duane retraction syndrome with congenital deafness with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Duane retraction syndrome with congenital deafness studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Duane retraction syndrome with congenital deafness
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Duane retraction syndrome with congenital deafness experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.