High myopia-sensorineural deafness syndrome

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ORPHA:363396OMIM:221200H90.5
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Overview

High myopia-sensorineural deafness syndrome is a rare genetic condition that combines two main problems: severe nearsightedness (high myopia) and hearing loss caused by nerve damage in the inner ear (sensorineural deafness). People with this syndrome typically develop significant vision problems because their eyeballs grow too long, making distant objects very blurry. The hearing loss affects the ability to perceive sounds because the nerves that carry sound signals from the inner ear to the brain do not work properly. Both features usually appear early in life and can range from moderate to severe. The combination of high myopia and sensorineural hearing loss in the same person suggests a shared genetic cause that affects the development or function of both the eye and the inner ear. These two organs share some structural similarities at the cellular level, which may explain why a single genetic defect can impact both systems. There is currently no cure for this syndrome. Treatment focuses on managing each symptom separately. Corrective lenses, contact lenses, or refractive surgery may help with the vision problems, while hearing aids or cochlear implants can improve hearing. Regular monitoring by both eye and ear specialists is important to track any changes and adjust treatments over time. Early intervention, especially for hearing loss in children, is critical to support speech and language development.

Also known as:

Key symptoms:

Severe nearsightedness (high myopia)Hearing loss from nerve damage (sensorineural deafness)Difficulty seeing distant objects clearlyTrouble hearing conversations, especially in noisy settingsDelayed speech or language development in childrenNeed for strong corrective lenses from a young ageProgressive worsening of vision over timeRisk of retinal detachment due to elongated eyeballDifficulty with balance in some cases

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for High myopia-sensorineural deafness syndrome.

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No actively recruiting trials found for High myopia-sensorineural deafness syndrome at this time.

New trials open frequently. Follow this disease to get notified.

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No specialists are currently listed for High myopia-sensorineural deafness syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to High myopia-sensorineural deafness syndrome.

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Community

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Latest news about High myopia-sensorineural deafness syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the myopia and hearing loss, and are they likely to get worse over time?,Should we pursue genetic testing to confirm the diagnosis and identify the specific gene involved?,What are the best options for correcting my child's vision and hearing?,How often should we schedule eye and hearing check-ups?,What signs of retinal detachment should we watch for?,Are there any clinical trials or new treatments being studied for this condition?,What school or workplace accommodations should we request?

Common questions about High myopia-sensorineural deafness syndrome

What is High myopia-sensorineural deafness syndrome?

High myopia-sensorineural deafness syndrome is a rare genetic condition that combines two main problems: severe nearsightedness (high myopia) and hearing loss caused by nerve damage in the inner ear (sensorineural deafness). People with this syndrome typically develop significant vision problems because their eyeballs grow too long, making distant objects very blurry. The hearing loss affects the ability to perceive sounds because the nerves that carry sound signals from the inner ear to the brain do not work properly. Both features usually appear early in life and can range from moderate to s

How is High myopia-sensorineural deafness syndrome inherited?

High myopia-sensorineural deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does High myopia-sensorineural deafness syndrome typically begin?

Typical onset of High myopia-sensorineural deafness syndrome is childhood. Age of onset can vary across affected individuals.