A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding Usher syndrome type 1 reflects its rarity, affecting fewer than 9 in 100,000 individuals. This rarity leads to fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the condition and its variability.
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Currently, there are orphan drug designations for a dual adeno-associated viral vector serotype 8 encoding for human myosin VIIA (MYO7A) in development. Additionally, there are two active clinical trials investigating potential treatments for Usher syndrome type 1. For more information on these trials, you can visit ClinicalTrials.gov and search for Usher syndrome type 1: https://clinicaltrials.gov/search?cond=Usher%20syndrome%20type%201.
Actionable guidance for navigating care for Usher syndrome type 1
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Usher syndrome type 1 community
Helpful links for rare disease information and support
The limited documentation surrounding Usher syndrome type 1 reflects its rarity, affecting fewer than 9 in 100,000 individuals. This rarity leads to fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the condition and its variability.
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Currently, there are orphan drug designations for a dual adeno-associated viral vector serotype 8 encoding for human myosin VIIA (MYO7A) in development. Additionally, there are two active clinical trials investigating potential treatments for Usher syndrome type 1. For more information on these trials, you can visit ClinicalTrials.gov and search for Usher syndrome type 1: https://clinicaltrials.gov/search?cond=Usher%20syndrome%20type%201.
Actionable guidance for navigating care for Usher syndrome type 1
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Usher syndrome type 1 community
Helpful links for rare disease information and support
The limited documentation surrounding Usher syndrome type 1 reflects its rarity, affecting fewer than 9 in 100,000 individuals. This rarity leads to fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the condition and its variability.
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Currently, there are orphan drug designations for a dual adeno-associated viral vector serotype 8 encoding for human myosin VIIA (MYO7A) in development. Additionally, there are two active clinical trials investigating potential treatments for Usher syndrome type 1. For more information on these trials, you can visit ClinicalTrials.gov and search for Usher syndrome type 1: https://clinicaltrials.gov/search?cond=Usher%20syndrome%20type%201.
Actionable guidance for navigating care for Usher syndrome type 1
To navigate your care effectively, consider consulting with an otolaryngologist (ENT specialist) or a geneticist with expertise in hereditary hearing loss and syndromic conditions. You may also benefit from reaching out to the Usher III Initiative, Inc, which provides resources and support for individuals affected by Usher syndrome (https://usheriii.org). Additionally, inquire about participating in patient registries or natural history studies that can contribute to a better understanding of the condition.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Usher syndrome type 1 community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
1 peer-reviewed source from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.