Usher syndrome

Also known as: Hallgren syndrome

Retinitis pigmentosa with sensorineural deafness.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Inherited retinal disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, deafness from birth in type 1
Gene(s) involved: ADGRV1, ARSG, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN

Etiology & mechanism

Ciliary and stereocilia protein defects.

Gene(s) involved (12)

ADGRV1ARSGCDH23CIB2CLRN1HARSMYO7APCDH15USH1CUSH1GUSH2AWHRN

Symptoms & signs (6)

balance problemscataractnight blindnessprogressive vision losssensorineural deafnesstunnel vision

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.