Usher Syndrome, Type III (CLRN1)

Usher syndrome type 3 is an autosomal recessive disease caused by pathogenic variants in the gene CLRN1. While it is a pan-ethnic disease, due to the presence of a founder mutation it is found more frequently in individuals of Ashkenazi Jewish descent. The disease is characterized by postlingual hearing loss and retinitis pigmentosa of varying severity, which usually begins in adolescence. Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and loss of visual acuity. Some patients with mild missense variants may develop retinitis pigmentosa only, without exhibiting hearing loss.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Usher Syndrome, Type IIICLRN11-3 [3] (*4)ARAshkenazi Jewish1 in 120>95%0.000419991600167997
Usher Syndrome, Type IIICLRN11-3 [3] (*4)ARWorldwide1 in 50075%0.000500751126690035
Usher Syndrome, Type IIICLRN11-3 [3] (*4)ARFinnish1 in 70>95%0.000724112961622013