Hearing Loss Associated with Eye Abnormalities and Vision (Usher Syndrome)
- Type 1 is characterized by profound hearing loss, retinitis pigmentosa with onset before age 10 years, and vestibular abnormalities. These children may be delayed in their acquisition of early motor milestones.
- Type 2 displays sloping, high-frequency sensorineural hearing loss, normal vestibular function, and later onset of retinitis pigmentosa than that seen in Type 1 disease.
- Type 3 is characterized by progressive audio-vestibular dysfunction over decades and variable-onset of retinitis pigmentosa. [National: 2018] Not every patient with both retinitis pigmentosa and sensorineural hearing loss has Usher syndrome.
Resources
Information & Support
For Professionals
Usher Syndrome Type 1 (GeneReviews)
Detailed review including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography;
US Library of Medicine.
Usher Syndrome Type 2 (GeneReviews)
Detailed review including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography;
US Library of Medicine.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
Services for Patients & Families in Idaho (ID)
Service Categories | # of providers* in: | ID | NW | Other states (5) (show) | | MT | NM | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|---|
Pediatric Ophthalmology | 9 | 1 | 14 | 9 | 6 | 8 | 6 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Helpful Articles
Gundfast, K and Josephson, G.
Hereditary hearing loss.
Clinical Otology. 1997; 480. New York: Thieme Medical Publishers; http://www.amazon.com/exec/obidos/tg/detail/-/0865776164/qid=110824374...
Tomaski SM, Grundfast KM.
A stepwise approach to the diagnosis and treatment of hereditary hearing loss.
Pediatr Clin North Am.
1999;46(1):35-48.
PubMed abstract
Page Bibliography
Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet Med.
2010.
PubMed abstract / Full Text
Mets MB, Young NM, Pass A, Lasky JB.
Early diagnosis of Usher syndrome in children.
Trans Am Ophthalmol Soc.
2000;98:237-42; discussion 243-5.
PubMed abstract / Full Text
National Institute on Deafness and Other Communication Disorders.
Usher Syndrome [NIDCD Health Information].
National Institutes of Health; (2018)
https://www.nidcd.nih.gov/health/usher-syndrome. Accessed on 02/13/18.
Includes general information about the three types of Usher syndrome and lists other useful internet sites.