Usher Syndrome Type I

CLINICAL CHARACTERISTICS: Usher syndrome type I (USH1) is characterized by congenital bilateral profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Individuals do not typically have adequate hearing levels to develop speech, but may develop speech after receiving a cochlear implant or use sign language for communication....

Audiologists seeing pediatric patients with congenital severe-to-profound sensorineural hearing loss should be aware of Usher Syndrome Type I as a differential and refer for ophthalmologic evaluation and genetic testing; no new practice change is introduced by this reference entry.

Usher Syndrome Type I is the most common cause of combined deafness and blindness, and a comprehensive genetic reference entry supports accurate diagnosis, genetic counseling, and early multidisciplinary management for affected families.

1. 01Usher Syndrome Type I causes congenital severe-to-profound sensorineural hearing loss present from birth.
2. 02Progressive vision loss from retinitis pigmentosa (retinal degeneration) typically begins in adolescence.
3. 03The condition is inherited in an autosomal recessive pattern, meaning both parents must carry a gene change.
4. 04Multiple genes (e.g., MYO7A, USH1C, CDH23) have been identified as causative.
5. 05Early genetic diagnosis enables timely cochlear implant candidacy assessment and vision monitoring.

PMID

20301442

Journal

GeneReviews (NCBI Bookshelf)

Publication type

review

Evidence level

5

Population

Individuals with Usher Syndrome Type I (congenital sensorineural hearing loss and progressive retinal degeneration)

Intervention

Genetic and clinical characterization of Usher Syndrome Type I