Usher syndrome
MeSH: D052245ORPHA: 886
Overview
syndrome characterized by a combination of hearing loss and visual impairment
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Usher syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentVisual impairmentAbnormal electroretinogramProgressive visual lossBlindnessNyctalopiaVisual field defectAbnormal vestibular functionAbnormal retinal pigmentationVestibular areflexiaCataractMyopiaAtaxiaHigh hypermetropiaTinnitusAstigmatismNystagmusCarious teethAbnormal dental enamel morphologyMicrodontiaPsychosisDepressionHallucinationsAnxietyHypertrophic cardiomyopathyCerebral cortical atrophyDelayed gross motor developmentClumsinessMyopathyEMG abnormalityAplasia/Hypoplasia of the cerebellumPeripheral visual field lossFloppy infantHyperacusisAbnormal cardiovascular system physiologyAbnormality of dental colorDelayed ability to walk
Classification & Codes
MeSH Code
D052245Orphanet Code
ORPHA:886Usher syndrome
| MeSH | D052245 |
| Orphanet | ORPHA:886 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO