Usher syndrome type 1
ORPHA: 231169
Overview
Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa
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 type 1, sourced from HPO and Orphanet clinical annotations.
Abnormal cochlea morphologySensorineural hearing impairmentRod-cone dystrophyAbnormal electroretinogramVisual lossScotomaNyctalopiaCataractDelayed speech and language developmentMotor delayAbnormal vestibular functionGait imbalanceReduced visual acuityPeripheral visual field lossDepressionAnxiety
Classification & Codes
Orphanet Code
ORPHA:231169Usher syndrome type 1
| Orphanet | ORPHA:231169 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO