Usher syndrome type 2
Synonyms: USH2
A rare ciliopathy characterized by congenital moderate-to-severe deafness retinitis pigmentosa developing in the first or second decade and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness constricted visual field (tunnel vision) and later on decreased visual acuity sometimes ending with bare light perception.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Usher syndrome type 2?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Usher 1F Collaborative
Usher 1F Collaborative is a 501c3 nonprofit foundation whose mission is to fund medical research to find an effective treatment to save or restore the vision of those with Usher Syndrome type 1F.
Usher Syndrome Coalition
To raise awareness and accelerate research for the most common genetic cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher syndrome.
Usher Syndrome Ireland
Usher Syndrome Ireland's mission, as per its governing constitution, is to promote and protect the health of those suffering from genetically inherited Usher Syndrome, through the provision of information for people affected by this condition, and by funding scientific research into the causes, treatment and cure of all types of the condition and publishing the useful results.
Usher Syndrome Society
The Usher Syndrome Society is a non-profit that uses the arts, educational events, and collaboration to raise awareness and funds for treatments and a cure for Usher syndrome.
Clinical Trials
For a list of clinical trials in this disease area, please click here.