Usher Syndrome, Type IIA (USH2A)

Usher syndrome type 2A is an autosomal recessive disease caused by pathogenic variants in the gene USH2A. While it is a pan-ethnic disease, due to the presence of a founder mutation it is found more frequently in Sephardic Jewish individuals from Iraq and Iran. The disease is characterized by congenital moderate to severe hearing loss, and patients may benefit from the use of hearing aids. Progressive loss of vision due to retinitis pigmentosa begins in late childhood or adolescence. Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and eventually blindness. Several specific variants have been associated with a milder form of the disease, and therefore disease severity may be predicted in some patients.









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

Usher Syndrome, Type IIAUSH2A2-7, 9-15, 17-23, 26-29, 32, 33, 36-48, 50-54, 56-66, 68, 70 [72] (*12)ARCaucasian1 in 7332%0.00934579439252336
Usher Syndrome, Type IIAUSH2A2-7, 9-15, 17-23, 26-29, 32, 33, 36-48, 50-54, 56-66, 68, 70 [72] (*12)ARWorldwide1 in 12631%0.00549450549450549
Usher Syndrome, Type IIAUSH2A2-7, 9-15, 17-23, 26-29, 32, 33, 36-48, 50-54, 56-66, 68, 70 [72] (*12)ARSephadic Jewish – Iraqi and Iranian 1 in 3664%0.0102040816326531