Overview
Usher syndrome (also known as Usher's syndrome or retinitis pigmentosa-deafness syndrome) is the most common genetic condition affecting both hearing and vision. It is a group of inherited disorders characterized by sensorineural hearing loss and retinitis pigmentosa (RP), a progressive degeneration of the retina that leads to gradual loss of peripheral and night vision, and can eventually result in severe visual impairment or blindness. Some forms also involve vestibular (balance) dysfunction. Usher syndrome is the leading cause of combined deafness and blindness (deaf-blindness). Usher syndrome is classified into three main clinical types. Type 1 (USH1) presents with profound congenital sensorineural hearing loss, vestibular areflexia (absent balance function), and onset of retinitis pigmentosa typically in the first decade of life. Type 2 (USH2) is characterized by moderate-to-severe congenital hearing loss, normal vestibular function, and RP onset typically in the second decade. Type 3 (USH3) features progressive hearing loss beginning in childhood or adolescence, variable vestibular dysfunction, and variable onset of RP. Multiple genes have been identified for each type, including MYO7A, USH1C, CDH23, PCDH15, and USH1G for type 1; USH2A, ADGRV1, and WHRN for type 2; and CLRN1 for type 3. There is currently no cure for Usher syndrome. Management is multidisciplinary and focuses on early identification and intervention. Hearing loss is addressed with hearing aids or cochlear implants, particularly in type 1 where early cochlear implantation can significantly improve speech and language development. Vision loss from RP is currently not reversible, though vitamin A supplementation has been explored to slow retinal degeneration in some patients. Gene therapy clinical trials are underway for several Usher subtypes, representing a promising area of research. Low-vision aids, orientation and mobility training, and communication strategies are important supportive measures. Genetic counseling is recommended for affected individuals and their families.
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Nacuity Pharmaceuticals, Inc. — PHASE1, PHASE2
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Usher syndrome.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Usher syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.
Common questions about Usher syndrome
What is Usher syndrome?
Usher syndrome (also known as Usher's syndrome or retinitis pigmentosa-deafness syndrome) is the most common genetic condition affecting both hearing and vision. It is a group of inherited disorders characterized by sensorineural hearing loss and retinitis pigmentosa (RP), a progressive degeneration of the retina that leads to gradual loss of peripheral and night vision, and can eventually result in severe visual impairment or blindness. Some forms also involve vestibular (balance) dysfunction. Usher syndrome is the leading cause of combined deafness and blindness (deaf-blindness). Usher synd
How is Usher syndrome inherited?
Usher syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Usher syndrome?
Yes — 3 recruiting clinical trials are currently listed for Usher syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Usher syndrome?
17 specialists and care centers treating Usher syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.