Usher syndrome type IIA

Epidemiology

• most common of form of Usher syndrome
• most frequent cause of combined deafness & blindness in adults
• affects 3-6% of children born with hearing impairment

Genetics

• autosomal recessive disorder

Clinical manifestations

• sensorineural hearing deficiencies at birth
• later development of progressive retinitis pigmentosa
• mild hearing impairment with normal vestibular responses

More general terms

• Usher syndrome type II

Database

• OMIM: https://mirror.omim.org/entry/276901
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7399