Usher Syndrome

Deafness-retinitis pigmentosa syndrome; dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome; Hallgren syndrome; Retinitis pigmentosa-deafness syndrome

Usher syndrome is a genetic disease causing deaf-blindness. It is essentially progressive retinitis pigmentosa combined with congenital hearing impairment. It is inherited in an autosomal recessive pattern and is estimated to occur in 1 in 10,000 people. While this is a rare genetic condition, it represents the major cause of syndromic deafness with blindness. The condition gets its name from British ophthalmologist, C.H. Usher, who in 1914 wrote a paper describing several cases in which the ...