Usher syndrome, type 1G

Usher syndrome, type 1G

A heterogeneous condition (OMIM:606943) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Molecular pathology
Defects of USH1G, which encodes a protein that plays a role in developing and maintaining the auditory and visual systems, cause Usher syndrome type 1G.